Entity Details

Primary name FUMH_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP07954
EntryNameFUMH_HUMAN
FullNameFumarate hydratase, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length510
SequenceStatuscomplete
DateCreated1988-08-01
DateModified2021-06-02

Ontological Relatives

GenesFH

GO terms

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GOName
GO:0000050 urea cycle
GO:0000415 negative regulation of histone H3-K36 methylation
GO:0000821 regulation of arginine metabolic process
GO:0004333 fumarate hydratase activity
GO:0005634 nucleus
GO:0005694 chromosome
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:0006281 DNA repair
GO:0006974 cellular response to DNA damage stimulus
GO:0035861 site of double-strand break
GO:0042393 histone binding
GO:0045239 tricarboxylic acid cycle enzyme complex
GO:0048873 homeostasis of number of cells within a tissue
GO:0070062 extracellular exosome
GO:0120162 positive regulation of cold-induced thermogenesis
GO:2001034 positive regulation of double-strand break repair via nonhomologous end joining

Subcellular Location

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Subcellular Location
Chromosome
Cytoplasm
Mitochondrion
Nucleus

Domains

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DomainNameCategoryType
IPR000362 Fumarate lyase familyFamilyFamily
IPR005677 Fumarate hydratase, class IIFamilyFamily
IPR008948 L-Aspartase-likeFamilyHomologous superfamily
IPR018951 Fumarase C, C-terminalDomainDomain
IPR020557 Fumarate lyase, conserved siteSiteConserved site
IPR022761 Fumarate lyase, N-terminalDomainDomain
IPR024083 Fumarase/histidase, N-terminalFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
606812 OMIMFumarase deficiency (FMRD)A severe autosomal recessive metabolic disorder characterized by early-onset hypotonia, profound psychomotor retardation, and brain abnormalities, such as agenesis of the corpus callosum, gyral defects, and ventriculomegaly. Many patients show neonatal distress, metabolic acidosis, and/or encephalopathy. The disease is caused by variants affecting the gene represented in this entry.
150800 OMIMHereditary leiomyomatosis and renal cell cancer (HLRCC)A disorder characterized by predisposition to cutaneous and uterine leiomyomas, and papillary type 2 renal cancer which occurs in about 20% of patients. The disease is caused by variants affecting the gene represented in this entry. Isoform Cytoplasmic: HLRCC is probably caused by an accumulation of fumarate (PubMed:30718813). Accumulation of fumarate coupled with protonation promotes the formation of non-enzymatic post-translational modification cysteine S-succination (S-(2-succinyl)cysteine) on proteins, such as SMARCC1 (PubMed:30718813).