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
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Pyruvate metabolism and Citric Acid (TCA) cycle pathway
Citric acid cycle (TCA cycle) pathway
The citric acid (TCA) cycle and respiratory electron transport pathway
Metabolism pathway
KEGG
Citrate cycle (TCA cycle) pathway
Pyruvate metabolism pathway
Pathways in cancer pathway
Renal cell carcinoma pathway
INOH
Arginine Proline metabolism pathway
Citrate cycle pathway
Tyrosine metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt P07954
TrEMBL
UniProt Splice Variant
Entrez Gene 2271
UniGene Hs.592490 Hs.701747
RefSeq NM_000143
HUGO HGNC:3700
OMIM 136850
CCDS CCDS1617
HPRD
IMGT
EMBL AK312415 BC003108 BC017444 BT009839 CH471098 M15502 U48857 U59309
GenPept AAA52483 AAB66354 AAD00071 AAH03108 AAH17444 AAP88841 BAG35325 EAW70092
RNA Seq Atlas 2271