• Gene id: 2271

Gene Summary

• Gene Symbol: FH   Gene   UCSC   Ensembl
• Aliases: FMRD, HLRCC, HsFH, LRCC, MCL, MCUL1
• Gene name: fumarate hydratase
• Alternate names: fumarate hydratase, mitochondrial, epididymis secretory sperm binding protein, fumarase,
• Gene location: 1q43 (241519754: 241497602)     Exons: 10     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 136850

Protein Summary

• Protein general information: P07954  
  • Name: Fumarate hydratase, mitochondrial (Fumarase) (HsFH) (EC 4.2.1.2)
  • Length: 510  
  • Mass: 54637
  • 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
• Sequence:

  MYRALRLLARSRPLVRAPAAALASAPGLGGAAVPSFWPPNAARMASQNSFRIEYDTFGELKVPNDKYYGAQTVRS
  TMNFKIGGVTERMPTPVIKAFGILKRAAAEVNQDYGLDPKIANAIMKAADEVAEGKLNDHFPLVVWQTGSGTQTN
  MNVNEVISNRAIEMLGGELGSKIPVHPNDHVNKSQSSNDTFPTAMHIAAAIEVHEVLLPGLQKLHDALDAKSKEF
  AQIIKIGRTHTQDAVPLTLGQEFSGYVQQVKYAMTRIKAAMPRIYELAAGGTAVGTGLNTRIGFAEKVAAKVAAL
  TGLPFVTAPNKFEALAAHDALVELSGAMNTTACSLMKIANDIRFLGSGPRSGLGELILPENEPGSSIMPGKVNPT
  QCEAMTMVAAQVMGNHVAVTVGGSNGHFELNVFKPMMIKNVLHSARLLGDASVSFTENCVVGIQANTERINKLMN
  ESLMLVTALNPHIGYDKAAKIAKTAHKNGSTLKETAIELGYLTAEQFDEWVKPKDMLGPK

• Structural information:
  • Interpro: IPR005677  IPR024083  IPR018951  IPR020557  IPR000362   IPR022761  IPR008948  
  • Prosite: PS00163
  • CDD: cd01362
  • PDB: 3E04 5D6B 5UPP 6EBT
  • PDBsum: 3E04 5D6B 5UPP 6EBT
  • DIP: 46920
  • STRING: ENSP00000355518
• Other Databases: GeneCards:  FH  Malacards:  FH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004333	fumarate hydratase activity	IMP	molecular function
GO:0006099	tricarboxylic acid cycle	IBA	biological process
GO:0006108	malate metabolic process	IBA	biological process
GO:0006106	fumarate metabolic process	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0004333	fumarate hydratase activity	IBA	molecular function
GO:0006106	fumarate metabolic process	IDA	biological process
GO:0006108	malate metabolic process	IDA	biological process
GO:0004333	fumarate hydratase activity	IDA	molecular function
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0016829	lyase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0004333	fumarate hydratase activity	IEA	molecular function
GO:0006106	fumarate metabolic process	IEA	biological process
GO:0045239	tricarboxylic acid cycle enzyme complex	IEA	cellular component
GO:0016829	lyase activity	IEA	molecular function
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0004333	fumarate hydratase activity	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0005739	mitochondrion	TAS	cellular component
GO:0006106	fumarate metabolic process	TAS	biological process
GO:0004333	fumarate hydratase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006099	tricarboxylic acid cycle	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0048873	homeostasis of number of cells within a tissue	IEA	biological process
GO:0004333	fumarate hydratase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0006106	fumarate metabolic process	IEA	biological process
GO:0006108	malate metabolic process	IEA	biological process
GO:0120162	positive regulation of cold-induced thermogenesis	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0005739	mitochondrion	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05200	Pathways in cancer
hsa04934	Cushing syndrome
hsa01200	Carbon metabolism
hsa05211	Renal cell carcinoma
hsa00620	Pyruvate metabolism
hsa00020	Citrate cycle

Diseases

Associated diseases	References
Cushing syndrome	KEGG:H01431
Malignant paraganglioma	KEGG:H01510
Bilateral macronodular adrenal hyperplasia	KEGG:H02049
Uterine leiomyoma	KEGG:H01640
Renal cell carcinoma	KEGG:H00021
Diseases of the tricarboxylic acid cycle	KEGG:H01022
Multiple cutaneous and uterine leiomyomata	KEGG:H00804
Fumarase deficiency	KEGG:H02004
Cushing syndrome	KEGG:H01431
Malignant paraganglioma	KEGG:H01510
Bilateral macronodular adrenal hyperplasia	KEGG:H02049
Uterine leiomyoma	KEGG:H01640
Renal cell carcinoma	KEGG:H00021
Diseases of the tricarboxylic acid cycle	KEGG:H01022
Multiple cutaneous and uterine leiomyomata	KEGG:H00804
Fumarase deficiency	KEGG:H02004
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)