Cell atlas - FH - The Human Protein Atlas

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
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION
Summary	Localized to the mitochondria.
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Mitochondria (validated)
siRNA	The location(s) are Validated based on siRNA mediated gene silencing.

DATA RELIABILITY
Reliability score	Validated based on 2 antibodies. CAB017785 , HPA025770
	SHOW MORE

ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to the mitochondria.

Main location

Mitochondria (validated)


	Toggle channels	Low High G1 S G2 M N/A

Antibody	Cell line	Location
CAB017785	U-2 OS	No staining
CAB017785	U-251 MG	Mitochondria
HPA025770	A-431	Mitochondria
HPA025770	U-2 OS	Mitochondria
HPA025770	U-251 MG	Mitochondria

siRNA VALIDATION

Relative fluorescence intensity (RFI)

Antibody

siRNA validation

Validated: Significant downregulation > 25% by one siRNA.

Analysis performed in

Cytoplasmic region of segmented cells in 10x-images

siRNA 2

RFI

25%

p-value

< 0.01


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail 10x	Thumbnail 40x	Antibody	Sample	Cell line
		HPA025770	siRNA 2	U-2 OS
		HPA025770	scrambled	U-2 OS

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 Show all	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) Show all	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] Show all	510 aa 54.6 kDa	No	0