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FH

GENERAL INFORMATION

Gene name

 FH

Gene description

 Fumarate hydratase

Protein class

 Cancer-related genes
Citric acid cycle related proteins
Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 1
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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

 Ubiquitous granular cytoplasmic expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data.

Reliability score

 Supported based on 4 antibodies.
HPA025770 , HPA025948 , HPA027341 , CAB017785
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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

Skin

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

 FH (HGNC Symbol)

Synonyms

 fumarase

Description

 Fumarate hydratase (HGNC Symbol)

Entrez gene summary

 The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic form and an N-terminal extended form, differing only in the translation start site used. The N-terminal extended form is targeted to the mitochondrion, where the removal of the extension generates the same form as in the cytoplasm. It is similar to some thermostable class II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead to progressive encephalopathy. [provided by RefSeq, Jul 2008]

Chromosome

 1

Cytoband

 q43

Chromosome location (bp)

 241497603 - 241519761

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000091483 (version 83.38)

Entrez gene

 2271

UniProt

 P07954 (UniProt - Evidence at protein level)

neXtProt

 NX_P07954

Antibodypedia

 FH antibodies

PROTEIN BROWSER
FH-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
FH-001
ENSP00000355518
ENST00000366560
P07954 [Direct mapping]
Fumarate hydratase, mitochondrial
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Enzymes
   ENZYME proteins
   Lyases
   Phobius predicted secreted proteins
Predicted intracellular proteins
Plasma proteins
Citric acid cycle related proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0003824 [catalytic activity]
GO:0004333 [fumarate hydratase activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0005829 [cytosol]
GO:0006099 [tricarboxylic acid cycle]
GO:0006106 [fumarate metabolic process]
GO:0006108 [malate metabolic process]
GO:0016829 [lyase activity]
GO:0044237 [cellular metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0045239 [tricarboxylic acid cycle enzyme complex]
GO:0048873 [homeostasis of number of cells within a tissue]
GO:0051262 [protein tetramerization]
GO:0070062 [extracellular exosome]
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 510 aa
54.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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