| URN | urn:agi-llid:7390 |
|---|---|
| Connectivity | 12 |
| Name | Uros |
| Description | uroporphyrinogen III synthase |
| Notes | The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq] |
| Pathway | New Pathway (1) |
|---|---|
| heme biosynthetic pathway |
| Ariadne Ontology | Tetrapyrroles biosynthesis |
|---|
| GO Molecular Function | molecular_function |
|---|---|
| cofactor binding | |
| lyase activity | |
| uroporphyrinogen-III synthase activity |
| GO Cellular Component | cellular_component |
|---|---|
| mitochondrion |
| GO Biological Process | biological_process |
|---|---|
| porphyrin biosynthetic process | |
| uroporphyrinogen III biosynthetic process | |
| heme biosynthetic process | |
| tetrapyrrole biosynthetic process | |
| response to antibiotic | |
| response to arsenic | |
| response to amine stimulus |
| Group | Tetrapyrroles biosynthesis |
|---|---|
| cellular_component | |
| mitochondrion | |
| molecular_function | |
| cofactor binding | |
| lyase activity | |
| uroporphyrinogen-III synthase activity | |
| biological_process | |
| porphyrin biosynthetic process | |
| uroporphyrinogen III biosynthetic process | |
| heme biosynthetic process | |
| tetrapyrrole biosynthetic process | |
| response to antibiotic | |
| response to arsenic | |
| response to amine stimulus |
| Hugo ID | 12592 |
|---|
| Human chromosome position | 10q25.2-q26.3 |
|---|
| LocusLink ID | 7390 |
|---|---|
| 22276 | |
| 309070 |
| Alias | RP11-124H7.1 |
|---|---|
| uroporphyrinogen III synthase | |
| OTTHUMP00000020709 | |
| OTTHUMP00000020710 | |
| Uros3 | |
| AI415298 | |
| URO-synthase | |
| OTTMUSP00000031233 | |
| OTTMUSP00000031234 | |
| OTTMUSP00000031235 | |
| uroporphyrinogen-III synthase | |
| hydroxymethylbilane hydrolyase (cyclizing) | |
| UROS | |
| Uroporphyrinogen- III cosynthetase | |
| uroporphyrinogen III synthase (congenital erythropoietic porphyria) | |
| UROIIIS | |
| UROIIISs | |
| congenital erythropoietic porphyria gene |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 606938 |
|---|---|
| 263700 |
| Swiss-Prot Accession | B2RC13 |
|---|---|
| P10746 | |
| Q5T3L7 | |
| Q5T3L8 | |
| Q9BT54 | |
| P51163 | |
| Q3UG55 | |
| Q3TPL3 | |
| Q3UKR3 | |
| Q9CW78 | |
| Q9JLU5 | |
| Q5XIF2 |
| Unigene ID | Hs.501376 |
|---|---|
| Mm.3160 | |
| Rn.22945 |
| KEGG ID | hsa:7390 |
|---|---|
| mmu:22276 | |
| rno:309070 |
| EC Number | 4.2.1.75 |
|---|
| Swiss-Prot ID | HEM4_HUMAN |
|---|---|
| HEM4_MOUSE | |
| B2RC13_HUMAN | |
| Q3UG55_MOUSE | |
| Q5XIF2_RAT |
| Cell Localization | Cytoplasm |
|---|
| GO ID | 0016829 |
|---|---|
| 0004852 | |
| 0006783 | |
| 0006780 | |
| 0006779 | |
| 0033014 | |
| 0005739 | |
| 0048037 | |
| 0003674 | |
| 0008150 | |
| 0014075 | |
| 0046677 | |
| 0046685 | |
| 0005575 |
| IPI ID | IPI00745889 |
|---|---|
| IPI00816053 | |
| IPI00745419 | |
| IPI00646718 | |
| IPI00644175 | |
| IPI00119087 | |
| IPI00857060 | |
| IPI00857871 | |
| IPI00858274 | |
| IPI00857596 | |
| IPI00360088 |
| Mouse chromosome position | 7 63.0 cM |
|---|
| Homologene ID | 37296 |
|---|
| MGI ID | 98917 |
|---|
| Rat chromosome position | 1q41 |
|---|
| RGD ID | 1310396 |
|---|