| URN | urn:agi-llid:2271 |
|---|---|
| Total Entities | 0 |
| Connectivity | 182 |
| 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. |
| Ariadne Ontology | Tricarboxylic acid cycle |
|---|---|
| Tumor suppressors | |
| Secreted proteins | |
| Biofluids assayable substances |
| GO Molecular Function | catalytic activity |
|---|---|
| lyase activity | |
| fumarate hydratase activity |
| GO Cellular Component | mitochondrial matrix |
|---|---|
| tricarboxylic acid cycle enzyme complex | |
| cytoplasm | |
| mitochondrion |
| GO Biological Process | metabolic process |
|---|---|
| fumarate metabolic process | |
| malate metabolic process | |
| tricarboxylic acid cycle | |
| small molecule metabolic process | |
| homeostasis of number of cells within a tissue |
| Pathway | renal cell cancer pathway |
|---|---|
| citric acid cycle pathway | |
| renal cell cancer pathway | |
| renal cell cancer pathway |
| Group | Tricarboxylic acid cycle |
|---|---|
| Tumor suppressors | |
| metabolic process | |
| fumarate metabolic process | |
| malate metabolic process | |
| tricarboxylic acid cycle | |
| small molecule metabolic process | |
| homeostasis of number of cells within a tissue | |
| catalytic activity | |
| lyase activity | |
| fumarate hydratase activity | |
| mitochondrial matrix | |
| tricarboxylic acid cycle enzyme complex | |
| cytoplasm | |
| mitochondrion | |
| Secreted proteins | |
| Biofluids assayable substances |
| 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 | |
| Fh1 | |
| fumarate hydratase 1 | |
| OTTHUMP00000037573 | |
| Multiple hereditary cutaneous leiomyomata protein | |
| LRCC protein | |
| Multiple hereditary cutaneous leiomyomata gene | |
| fumarate hydratase I | |
| mitochondrial similar to Fumarate hydratase | |
| mitochondrial Fumarate hydratase | |
| MGC105468 | |
| MCUL I | |
| OTTMUSP00000031090 | |
| Leiomyomatosis and renal cell cancer protein | |
| Leiomyomatosis and renal cell cancer gene | |
| HLRCC protein | |
| HLRCC gene | |
| fumarate hydratase | |
| LRCC gene | |
| 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 |
| Unigene ID | Hs.592490 |
|---|---|
| Mm.41502 | |
| Rn.29782 |
| KEGG ID | hsa:2271 |
|---|---|
| mmu:14194 | |
| rno:24368 |
| Swiss-Prot Accession | B1ANK7 |
|---|---|
| P07954 | |
| P97807 | |
| Q5M964 | |
| P14408 | |
| Q3UIA9 | |
| Q99JL0 | |
| Q9DCX0 |
| EC Number | 4.2.1.2 |
|---|
| GO ID | 0004333 |
|---|---|
| 0006106 | |
| 0048873 | |
| 0006108 | |
| 0044281 | |
| 0006099 | |
| 0005737 | |
| 0005759 | |
| 0005739 | |
| 0045239 | |
| 0003824 | |
| 0016829 | |
| 0008152 | |
| 0045786 |
| PIR ID | S06213 |
|---|
| Swiss-Prot ID | FUMH_HUMAN |
|---|---|
| FUMH_MOUSE | |
| B1ANK7_HUMAN | |
| Q3UIA9_MOUSE | |
| Q5M964_RAT |
| Cell Localization | Mitochondrion |
|---|---|
| Cytoplasm | |
| Mitochondria |
| IPI ID | IPI00296053 |
|---|---|
| IPI00759715 | |
| IPI00129928 | |
| IPI00759940 | |
| IPI00760133 | |
| IPI00231611 |
| Mouse chromosome position | 1 |
|---|---|
| 1 H4 |
| Rat chromosome position | 13q25 |
|---|
| Homologene ID | 115 |
|---|
| MGI ID | 95530 |
|---|
| RGD ID | 2614 |
|---|
| Primary Cell Localization | Mitochondria |
|---|