| URN | urn:agi-llid:5498 |
|---|---|
| Connectivity | 18 |
| Name | Ppox |
| Description | protoporphyrinogen oxidase |
| Notes | This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq] |
| Pathway | New Pathway (1) |
|---|---|
| heme biosynthetic pathway |
| Ariadne Ontology | Tetrapyrroles biosynthesis |
|---|
| GO Molecular Function | electron carrier activity |
|---|---|
| FAD binding | |
| oxidoreductase activity | |
| protoporphyrinogen oxidase activity |
| GO Cellular Component | membrane |
|---|---|
| mitochondrion | |
| mitochondrial intermembrane space | |
| mitochondrial inner membrane | |
| intrinsic to mitochondrial inner membrane |
| GO Biological Process | porphyrin biosynthetic process |
|---|---|
| heme biosynthetic process | |
| porphyrin metabolic process | |
| protoporphyrinogen IX metabolic process | |
| oxidation reduction |
| Group | Tetrapyrroles biosynthesis |
|---|---|
| membrane | |
| mitochondrion | |
| mitochondrial intermembrane space | |
| mitochondrial inner membrane | |
| intrinsic to mitochondrial inner membrane | |
| electron carrier activity | |
| FAD binding | |
| oxidoreductase activity | |
| protoporphyrinogen oxidase activity | |
| porphyrin biosynthetic process | |
| heme biosynthetic process | |
| porphyrin metabolic process | |
| protoporphyrinogen IX metabolic process | |
| oxidation reduction |
| Hugo ID | 9280 |
|---|
| Human chromosome position | 1q22 |
|---|
| LocusLink ID | 5498 |
|---|---|
| 19044 | |
| 289219 |
| Alias | VP |
|---|---|
| PPO | |
| V290M | |
| MGC8485 | |
| protoporphyrinogen oxidase | |
| OTTHUMP00000032237 | |
| OTTHUMP00000032238 | |
| variegate porphyria | |
| OTTMUSP00000024018 | |
| protoporhyrinogen oxidase | |
| PPOX | |
| variegate porphyria protein | |
| variegate porphyria gene |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 600923 |
|---|---|
| 176200 |
| Swiss-Prot Accession | P50336 |
|---|---|
| Q5VTW8 | |
| Q96RP0 | |
| Q96SE3 | |
| Q96TC9 | |
| Q9H2U7 | |
| Q9H2U8 | |
| P51175 | |
| Q3UQA3 | |
| Q6LC38 |
| Unigene ID | Hs.517373 |
|---|---|
| Mm.266888 | |
| Rn.24738 |
| KEGG ID | hsa:5498 |
|---|---|
| rno:289219 |
| EC Number | 1.3.3.4 |
|---|
| Swiss-Prot ID | PPOX_HUMAN |
|---|---|
| PPOX_MOUSE | |
| Q5VTW8_HUMAN | |
| Q3UQA3_MOUSE |
| Cell Localization | Cytoplasm |
|---|
| GO ID | 0050660 |
|---|---|
| 0009055 | |
| 0016491 | |
| 0004729 | |
| 0006783 | |
| 0055114 | |
| 0031304 | |
| 0016020 | |
| 0005758 | |
| 0005739 | |
| 0006779 | |
| 0005743 | |
| 0006778 | |
| 0046501 |
| IPI ID | IPI00031357 |
|---|---|
| IPI00119116 | |
| IPI00371524 |
| Homologene ID | 262 |
|---|
| MGI ID | 104968 |
|---|
| Rat chromosome position | 13q24 |
|---|
| RGD ID | 1310543 |
|---|