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FAH

GENERAL INFORMATION

Gene name

 FAH

Gene description

 Fumarylacetoacetate hydrolase (fumarylacetoacetase)

Protein class

 Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 5
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in the liver and kidney.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA041370 , HPA044093
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 FAH

Synonyms

Description

 Fumarylacetoacetate hydrolase (fumarylacetoacetase) (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 15

Cytoband

 q25.1

Chromosome location (bp)

 80152490 - 80186946

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000103876 (version 83.38)

Entrez gene

 2184

UniProt

 P16930 (UniProt - Evidence at protein level)

neXtProt

 NX_P16930

Antibodypedia

 FAH antibodies

PROTEIN BROWSER
FAH-001
FAH-004
FAH-005
FAH-006
FAH-007

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
FAH-001
ENSP00000385080
ENST00000407106
P16930 [Direct mapping]
Fumarylacetoacetase
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0004334 [fumarylacetoacetase activity]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0006527 [arginine catabolic process]
GO:0006559 [L-phenylalanine catabolic process]
GO:0006572 [tyrosine catabolic process]
GO:0008152 [metabolic process]
GO:0009072 [aromatic amino acid family metabolic process]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0046872 [metal ion binding]
GO:0070062 [extracellular exosome]
Show all
 419 aa
46.4 kDa 		No 0
FAH-004
ENSP00000454271
ENST00000539156
P16930 [Direct mapping]
Fumarylacetoacetase
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0004334 [fumarylacetoacetase activity]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0006559 [L-phenylalanine catabolic process]
GO:0006572 [tyrosine catabolic process]
GO:0008152 [metabolic process]
GO:0009072 [aromatic amino acid family metabolic process]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0046872 [metal ion binding]
GO:0070062 [extracellular exosome]
Show all
 349 aa
38.6 kDa 		No 0
FAH-005
ENSP00000261755
ENST00000261755
P16930 [Direct mapping]
Fumarylacetoacetase
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0004334 [fumarylacetoacetase activity]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0006559 [L-phenylalanine catabolic process]
GO:0006572 [tyrosine catabolic process]
GO:0008152 [metabolic process]
GO:0009072 [aromatic amino acid family metabolic process]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0046872 [metal ion binding]
GO:0070062 [extracellular exosome]
Show all
 419 aa
46.4 kDa 		No 0
FAH-006
ENSP00000453347
ENST00000561421
P16930 [Direct mapping]
Fumarylacetoacetase
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0004334 [fumarylacetoacetase activity]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0006559 [L-phenylalanine catabolic process]
GO:0006572 [tyrosine catabolic process]
GO:0008152 [metabolic process]
GO:0009072 [aromatic amino acid family metabolic process]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0046872 [metal ion binding]
GO:0070062 [extracellular exosome]
Show all
 419 aa
46.4 kDa 		No 0
FAH-007
ENSP00000453152
ENST00000558022
H0YLC7 [Direct mapping]
Fumarylacetoacetase
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0004334 [fumarylacetoacetase activity]
GO:0008152 [metabolic process]
GO:0009072 [aromatic amino acid family metabolic process]
Show all
 161 aa
18 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.