Version 5.4
Homo sapiens Gene: FH
Summary
InnateDB Gene IDBG-107689.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FH
Gene Name fumarate hydratase
Synonyms HLRCC; LRCC; MCL; MCUL1
Species Homo sapiens
Ensembl Gene ENSG00000091483
Encoded Proteins
IDBP-107691
fumarate hydratase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:241497603-241519761
Strand Reverse strand
Band q43
Transcripts
ENST00000366560 ENSP00000355518
ENST00000497042
ENST00000493477
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 41 experimentally validated interaction(s) in this database.
Experimentally validated
Total 41 [view]
Protein-Protein 39 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004333 fumarate hydratase activity
GO:0016829 lyase activity
Biological Process
GO:0006099 tricarboxylic acid cycle
GO:0006106 fumarate metabolic process
GO:0044237 cellular metabolic process
GO:0044281 small molecule metabolic process
GO:0048873 homeostasis of number of cells within a tissue
Cellular Component
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0045239 tricarboxylic acid cycle enzyme complex
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000026526
View Gene Order
ENSBTAG00000021688
Not yet available
Pathways
NETPATH
REACTOME
REACT_1785
Citric acid cycle (TCA cycle) pathway
REACT_1046
Pyruvate metabolism and Citric Acid (TCA) cycle pathway
REACT_111083
The citric acid (TCA) cycle and respiratory electron transport pathway
REACT_111217
Metabolism pathway
KEGG
hsa00620
Pyruvate metabolism pathway
hsa00020
Citrate cycle (TCA cycle) pathway
hsa05211
Renal cell carcinoma pathway
hsa05200
Pathways in cancer pathway
INOH
INOH website
Arginine Proline metabolism pathway
INOH website
Citrate cycle pathway
INOH website
Tyrosine metabolism pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.592490 Hs.701747
RefSeq NM_000143
HUGO
OMIM
CCDS CCDS1617
HPRD 00652
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca