| URN | urn:agi-llid:2235 |
|---|---|
| Connectivity | 56 |
| Name | Fech |
| Description | ferrochelatase (protoporphyria) |
| Notes | The protein encoded by this gene is localized to the mitochondrion, where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this gene are associated with erythropoietic protoporphyria. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] |
| Pathway | New Pathway (1) |
|---|---|
| heme biosynthetic pathway |
| Ariadne Ontology | Tetrapyrroles biosynthesis |
|---|
| GO Molecular Function | protein binding |
|---|---|
| tetrapyrrole binding | |
| metal ion binding | |
| iron ion binding | |
| ferrous iron binding | |
| heme binding | |
| iron-sulfur cluster binding | |
| 2 iron, 2 sulfur cluster binding | |
| iron-responsive element binding | |
| lyase activity | |
| ferrochelatase activity |
| GO Cellular Component | cellular_component |
|---|---|
| membrane | |
| mitochondrion | |
| mitochondrial matrix | |
| mitochondrial inner membrane |
| GO Biological Process | very-low-density lipoprotein particle assembly |
|---|---|
| iron ion homeostasis | |
| erythrocyte differentiation | |
| generation of precursor metabolites and energy | |
| cholesterol metabolic process | |
| porphyrin biosynthetic process | |
| heme biosynthetic process | |
| heme metabolic process | |
| protoporphyrinogen IX metabolic process | |
| detection of UV | |
| response to light stimulus |
| Group | Tetrapyrroles biosynthesis |
|---|---|
| cellular_component | |
| membrane | |
| mitochondrion | |
| mitochondrial matrix | |
| mitochondrial inner membrane | |
| protein binding | |
| tetrapyrrole binding | |
| metal ion binding | |
| iron ion binding | |
| ferrous iron binding | |
| heme binding | |
| iron-sulfur cluster binding | |
| 2 iron, 2 sulfur cluster binding | |
| iron-responsive element binding | |
| lyase activity | |
| ferrochelatase activity | |
| very-low-density lipoprotein particle assembly | |
| iron ion homeostasis | |
| erythrocyte differentiation | |
| generation of precursor metabolites and energy | |
| cholesterol metabolic process | |
| porphyrin biosynthetic process | |
| heme biosynthetic process | |
| heme metabolic process | |
| protoporphyrinogen IX metabolic process | |
| detection of UV | |
| response to light stimulus |
| Hugo ID | 3647 |
|---|
| Human chromosome position | 18q21.3 |
|---|
| LocusLink ID | 2235 |
|---|---|
| 14151 | |
| 361338 |
| Alias | EPP |
|---|---|
| FCE | |
| ferrochelatase | |
| heme synthetase | |
| protoheme ferro-lyase | |
| Fcl | |
| fch | |
| AI894116 | |
| FECH | |
| ferrochelatase (protoporphyria) | |
| Protoheme ferro- lyase | |
| heme synthase | |
| iron chelatase | |
| ferro-protoporphyrin chelatase | |
| ferro-protoporphyrin chelatases | |
| heme synthases | |
| iron chelatases |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 612386 |
|---|---|
| 177000 |
| Swiss-Prot Accession | A8KA72 |
|---|---|
| P22830 | |
| Q8NAN0 | |
| Q53FU1 | |
| Q5TZY0 | |
| Q7KZA3 | |
| Q8TD50 | |
| Q544X6 | |
| P22315 | |
| Q3UC49 | |
| Q4QRK2 | |
| Q8C3V7 | |
| Q91W09 |
| Unigene ID | Hs.365365 |
|---|---|
| Mm.1070 | |
| Rn.92711 |
| KEGG ID | rno:361338 |
|---|
| EC Number | 4.99.1.1 |
|---|
| Swiss-Prot ID | HEMH_HUMAN |
|---|---|
| A8KA72_HUMAN | |
| Q8NAN0_HUMAN | |
| Q544X6_MOUSE |
| Cell Localization | Cytoplasm |
|---|
| GO ID | 0051537 |
|---|---|
| 0004325 | |
| 0008198 | |
| 0046872 | |
| 0005515 | |
| 0009589 | |
| 0006091 | |
| 0006783 | |
| 0046501 | |
| 0009416 | |
| 0016020 | |
| 0005743 | |
| 0005759 | |
| 0005739 | |
| 0020037 | |
| 0005506 | |
| 0030350 | |
| 0051536 | |
| 0016829 | |
| 0046906 | |
| 0008203 | |
| 0030218 | |
| 0055072 | |
| 0006779 | |
| 0034379 | |
| 0042168 | |
| 0005575 |
| IPI ID | IPI00027776 |
|---|---|
| IPI00644434 | |
| IPI00645401 | |
| IPI00645429 | |
| IPI00554589 | |
| IPI00228343 | |
| IPI00608064 | |
| IPI00365132 | |
| IPI00767801 |
| Mouse chromosome position | 18 39.0 cM |
|---|
| Homologene ID | 113 |
|---|
| MGI ID | 95513 |
|---|
| Rat chromosome position | 18q12.1 |
|---|
| RGD ID | 1307556 |
|---|