| URN | urn:agi-llid:5498 |
|---|---|
| Total Entities | 0 |
| Connectivity | 92 |
| 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] |
| GO Molecular Function | oxidoreductase activity |
|---|---|
| oxygen-dependent protoporphyrinogen oxidase activity | |
| flavin adenine dinucleotide binding |
| GO Cellular Component | membrane |
|---|---|
| integral component of mitochondrial inner membrane | |
| intrinsic component of mitochondrial inner membrane | |
| mitochondrial membrane | |
| mitochondrial inner membrane | |
| mitochondrial intermembrane space | |
| mitochondrion |
| GO Biological Process | small molecule metabolic process |
|---|---|
| oxidation-reduction process | |
| heme biosynthetic process | |
| protoporphyrinogen IX biosynthetic process | |
| response to drug | |
| porphyrin-containing compound biosynthetic process | |
| porphyrin-containing compound metabolic process | |
| protoporphyrinogen IX metabolic process |
| Pathway | heme biosynthetic pathway |
|---|
| Group | Tetrapyrroles biosynthesis |
|---|---|
| small molecule metabolic process | |
| oxidation-reduction process | |
| heme biosynthetic process | |
| protoporphyrinogen IX biosynthetic process | |
| oxidoreductase activity | |
| oxygen-dependent protoporphyrinogen oxidase activity | |
| response to drug | |
| porphyrin-containing compound biosynthetic process | |
| porphyrin-containing compound metabolic process | |
| protoporphyrinogen IX metabolic process | |
| flavin adenine dinucleotide binding | |
| membrane | |
| integral component of mitochondrial inner membrane | |
| intrinsic component of mitochondrial inner membrane | |
| mitochondrial membrane | |
| mitochondrial inner membrane | |
| mitochondrial intermembrane space | |
| mitochondrion |
| LocusLink ID | 5498 |
|---|---|
| 19044 | |
| 289219 |
| Cell Localization | Cytoplasm |
|---|---|
| Mitochondrion inner membrane |
| GO ID | 0050660 |
|---|---|
| 0004729 | |
| 0006783 | |
| 0055114 | |
| 0006779 | |
| 0006778 | |
| 0006782 | |
| 0042493 | |
| 0044281 | |
| 0031305 | |
| 0031304 | |
| 0005758 | |
| 0031966 | |
| 0016491 | |
| 0046501 | |
| 0016020 | |
| 0005743 | |
| 0005739 | |
| 0009055 |
| Alias | VP |
|---|---|
| PPO | |
| V290M | |
| protoporphyrinogen oxidase | |
| protoporhyrinogen oxidase | |
| OTTHUMP00000032237 | |
| variegate porphyria protein | |
| variegate porphyria gene | |
| MGC8485 | |
| OTTHUMP00000032238 | |
| OTTMUSP00000024018 | |
| PPOX | |
| variegate porphyria |
| Mouse chromosome position | 1 |
|---|
| OMIM ID | 600923 |
|---|---|
| 176200 |
| Rat chromosome position | 13q24 |
|---|
| Hugo ID | 9280 |
|---|
| Human chromosome position | 1q22 |
|---|
| Swiss-Prot Accession | P50336 |
|---|---|
| B3KT30 | |
| B4DY76 | |
| P51175 | |
| Q3UQA3 | |
| D3ZVN7 | |
| D3DVG0 | |
| Q5VTW8 | |
| P97344 | |
| Q99M34 | |
| Q96RP0 | |
| Q96SE3 | |
| Q96TC9 | |
| Q9H2U7 | |
| Q9H2U8 | |
| Q6LC38 |
| PIR ID | JC4971 |
|---|---|
| S65684 | |
| S68367 |
| Unigene ID | Hs.517373 |
|---|---|
| Mm.266888 | |
| Rn.24738 |
| KEGG ID | hsa:5498 |
|---|---|
| mmu:19044 | |
| rno:289219 |
| Swiss-Prot ID | PPOX_HUMAN |
|---|---|
| PPOX_MOUSE | |
| Q5VTW8_HUMAN | |
| Q3UQA3_MOUSE |
| EC Number | 1.3.3.4 |
|---|
| Ensembl ID | ENSG00000143224 |
|---|---|
| ENSP00000343943 | |
| ENST00000352210 | |
| ENSP00000356978 | |
| ENST00000367999 | |
| ENSMUSG00000062729 | |
| ENSMUSP00000072863 | |
| ENSMUST00000073120 | |
| ENSRNOG00000003567 | |
| ENSRNOP00000004896 | |
| ENSRNOT00000004896 |
| Homologene ID | 262 |
|---|
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| MGI ID | 104968 |
|---|
| RGD ID | 1310543 |
|---|
| MedScan ID | 5498 |
|---|
| IPI ID | IPI00031357 |
|---|---|
| IPI00119116 | |
| IPI00371524 |