InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FH

Summary

InnateDB Protein

IDBP-107691.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Protein Name

fumarate hydratase

Synonyms

HLRCC; LRCC; MCL; MCUL1;

Species

Homo sapiens

Ensembl Protein

ENSP00000355518

InnateDB Gene

IDBG-107689 (FH)

Protein Structure

UniProt Annotation

Function

Also acts as a tumor suppressor.

Subcellular Localization

Isoform Mitochondrial: Mitochondrion.Isoform Cytoplasmic: Cytoplasm.

Disease Associations

Fumarase deficiency (FHD) [MIM:606812]: Characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia. {ECO:0000269PubMed:9635293, ECO:0000269Ref.14}. Note=The disease is caused by mutations affecting the gene represented in this entry.Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]: A disorder characterized by predisposition to cutaneous and uterine leiomyomas, and papillary type 2 renal cancer which occurs in about 20% of patients. {ECO:0000269PubMed:11865300}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in red blood cells; underexpressed in red blood cells (cytoplasm) of patients with hereditary non- spherocytic hemolytic anemia of unknown etiology. {ECO:0000269PubMed:22509282}.

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR000362 Fumarate lyase family
IPR005677 Fumarate hydratase, class II
IPR008948 L-Aspartase-like
IPR018951 Fumarase C, C-terminal
IPR022761 Fumarate lyase, N-terminal

PFAM

PF10415
PF00206

PRINTS

PR00149

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P07954