| URN | urn:agi-llid:2271 |
|---|---|
| Connectivity | 47 |
| Name | Fh |
| Description | fumarate hydratase |
| Notes | 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. |
| Pathway | citrate cycle pathway |
|---|---|
| citric acid cycle pathway |
| GO Molecular Function | catalytic activity |
|---|---|
| lyase activity | |
| fumarate hydratase activity |
| GO Cellular Component | cytoplasm |
|---|---|
| tricarboxylic acid cycle enzyme complex | |
| mitochondrion | |
| mitochondrial matrix |
| GO Biological Process | fumarate metabolic process |
|---|---|
| malate metabolic process | |
| tricarboxylic acid cycle | |
| homeostasis of number of cells within a tissue |
| Ariadne Ontology | Tricarboxylic acid cycle |
|---|---|
| Tumor suppressors |
| Group | Tricarboxylic acid cycle |
|---|---|
| Tumor suppressors | |
| catalytic activity | |
| fumarate metabolic process | |
| malate metabolic process | |
| tricarboxylic acid cycle | |
| homeostasis of number of cells within a tissue | |
| lyase activity | |
| fumarate hydratase activity | |
| cytoplasm | |
| tricarboxylic acid cycle enzyme complex | |
| mitochondrion | |
| mitochondrial matrix |
| MedScan ID | 2271 |
|---|
| Hugo ID | 3700 |
|---|
| Human chromosome position | 1q42.1 |
|---|
| LocusLink ID | 2271 |
|---|---|
| 14194 | |
| 24368 |
| Alias | MCL |
|---|---|
| LRCC | |
| HLRCC | |
| MCUL1 | |
| fumarate hydratase, mitochondrial | |
| fumarase | |
| Fh | |
| Fh-1 | |
| EF-3 | |
| OTTMUSP00000031090 | |
| MGC105468 | |
| fumarate hydratase | |
| fumarate hydratase 1 | |
| fumarate hydratase I | |
| HLRCC gene | |
| HLRCC protein | |
| Leiomyomatosis and renal cell cancer gene | |
| Leiomyomatosis and renal cell cancer protein | |
| LRCC gene | |
| LRCC protein | |
| MCUL I | |
| mitochondrial Fumarate hydratase | |
| mitochondrial similar to Fumarate hydratase | |
| Multiple hereditary cutaneous leiomyomata gene | |
| Multiple hereditary cutaneous leiomyomata protein | |
| OTTHUMP00000037573 | |
| multiple hereditary cutaneous leiomyomata | |
| mitochondrial Fumarate hydratase precursor | |
| Fumarate hydratase, mitochondrial precursor | |
| mitochondrial similar to Fumarate hydratase precursor | |
| fetal hematoma | |
| Fumarase) (EF-3 | |
| Leiomyomatosis and renal cell cancer | |
| mitochondrial similar to Fumarate hydratase precursor (Fumarase) (EF-3) |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 136850 |
|---|---|
| 606812 | |
| 605839 | |
| 150800 |
| Mouse chromosome position | 1 |
|---|---|
| 1 H4 |
| GO ID | 0004333 |
|---|---|
| 0016829 | |
| 0006106 | |
| 0048873 | |
| 0006108 | |
| 0006099 | |
| 0005737 | |
| 0005759 | |
| 0005739 | |
| 0045239 | |
| 0003824 | |
| 0045786 |
| Rat chromosome position | 13q25 |
|---|
| Swiss-Prot Accession | B1ANK7 |
|---|---|
| P07954 | |
| Q3UIA9 | |
| P97807 | |
| Q5M964 | |
| P14408 |
| PIR ID | S06213 |
|---|
| Unigene ID | Hs.592490 |
|---|---|
| Mm.41502 | |
| Rn.29782 |
| KEGG ID | hsa:2271 |
|---|---|
| mmu:14194 | |
| rno:24368 |
| EC Number | 4.2.1.2 |
|---|
| Swiss-Prot ID | FUMH_HUMAN |
|---|---|
| B1ANK7_HUMAN | |
| Q3UIA9_MOUSE | |
| Q5M964_RAT |
| Cell Localization | Mitochondrion |
|---|---|
| Cytoplasm | |
| Mitochondria |
| IPI ID | IPI00296053 |
|---|---|
| IPI00759715 | |
| IPI00759940 | |
| IPI00760133 | |
| IPI00129928 | |
| IPI00231611 |
| Homologene ID | 115 |
|---|
| RGD ID | 2614 |
|---|
| MGI ID | 95530 |
|---|