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GENE AND PROTEIN SUMMARY

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Gene name

FH

Description

fumarate hydratase

Protein class

Enzymes, Mapped to UniProt SWISS-PROT, Mutated genes in cancer, Potentially secreted proteins

Protein evidence

High

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

1 in total
0 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Cytoplasm, Mitochondria

Additional location(s)

 

Staining summary

Localized to mitochondria and cytoplasm.

Reliability (APE)

High

Antibodies in assay

CAB017785, HPA025770, HPA027341
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Ubiquitous granular cytoplasmic expression.

Tissue specificity

Expressed in 80 out of 80 cell types

Reliability (APE)

High

Antibodies in assay

CAB017785, HPA025770, HPA025948, HPA027341
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 12
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 84% of the cancers

Antibodies in assay

CAB017785, HPA025770, HPA025948, HPA027341
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA025770

HPA025948

HPA027341

CAB017785

HPA025770

HPA027341

A-431 Skin High
ModerateModerate
A-549 Lung High
CACO-2 Colon High
HEK 293 Embryonal kidney High
HeLa Cervix High
Hep-G2 Liver High
MCF-7 Pleural effusion High
PC-3 Bone marrow High
RT-4 Urinary bladder High
U-2 OS Bone High
NegativeStrongModerate
U-251 MG Brain High
WeakStrongModerate

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

CAB017785 msAb
HPA025770 pAb
HPA025948 pAb
HPA027341 pAb