| URN | urn:agi-llid:3145 |
|---|---|
| Connectivity | 27 |
| Name | Hmbs |
| Description | hydroxymethylbilane synthase |
| Notes | This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] |
| Pathway | New Pathway (1) |
|---|---|
| heme biosynthetic pathway |
| Ariadne Ontology | Tetrapyrroles biosynthesis |
|---|
| GO Molecular Function | carboxylic acid binding |
|---|---|
| amine binding | |
| coenzyme binding | |
| transferase activity | |
| hydroxymethylbilane synthase activity |
| GO Cellular Component | cytoplasm |
|---|---|
| mitochondrion | |
| nucleus | |
| condensed chromosome |
| GO Biological Process | porphyrin biosynthetic process |
|---|---|
| heme biosynthetic process | |
| tetrapyrrole biosynthetic process |
| Group | Tetrapyrroles biosynthesis |
|---|---|
| cytoplasm | |
| mitochondrion | |
| nucleus | |
| condensed chromosome | |
| carboxylic acid binding | |
| amine binding | |
| coenzyme binding | |
| transferase activity | |
| hydroxymethylbilane synthase activity | |
| porphyrin biosynthetic process | |
| heme biosynthetic process | |
| tetrapyrrole biosynthetic process |
| Hugo ID | 4982 |
|---|
| Human chromosome position | 11q23.3 |
|---|
| LocusLink ID | 3145 |
|---|---|
| 15288 | |
| 25709 |
| Alias | UPS |
|---|---|
| PBGD | |
| PBG-D | |
| hydroxymethylbilane synthase | |
| porphobilinogen deaminase | |
| uroporphyrinogen I synthase | |
| pre-uroporphyrinogen synthase | |
| uroporphyrinogen I synthetase | |
| Uros1 | |
| T25658 | |
| hemC | |
| MGC108753 | |
| alternative name: porphobilinogen deaminase | |
| Hmbs | |
| Uros I | |
| LOC235314 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 609806 |
|---|---|
| 176000 |
| Swiss-Prot Accession | A8K2L0 |
|---|---|
| P08397 | |
| Q0G847 | |
| Q68Y91 | |
| Q6LER4 | |
| Q3UPG1 | |
| Q3TIV0 | |
| Q3UBC6 | |
| P22907 | |
| Q99L41 | |
| Q5M893 | |
| P19356 | |
| Q9R2B9 |
| Unigene ID | Hs.82609 |
|---|---|
| Mm.247676 | |
| Mm.436520 | |
| Rn.11080 |
| KEGG ID | hsa:3145 |
|---|---|
| mmu:15288 | |
| rno:25709 |
| EC Number | 2.5.1.61 |
|---|---|
| 4.3.1.8 |
| Swiss-Prot ID | HEM3_HUMAN |
|---|---|
| A8K2L0_HUMAN | |
| Q3TIV0_MOUSE | |
| Q3UBC6_MOUSE | |
| Q3UPG1_MOUSE | |
| Q5M893_RAT |
| Cell Localization | Cytoplasm |
|---|
| GO ID | 0004418 |
|---|---|
| 0016740 | |
| 0006783 | |
| 0005737 | |
| 0005739 | |
| 0006779 | |
| 0033014 | |
| 0043176 | |
| 0031406 | |
| 0050662 | |
| 0000793 | |
| 0005634 |
| IPI ID | IPI00028160 |
|---|---|
| IPI00219877 | |
| IPI00133589 | |
| IPI00230382 | |
| IPI00877259 | |
| IPI00408022 | |
| IPI00194345 | |
| IPI00551682 |
| Mouse chromosome position | 9 26.0 cM |
|---|
| Homologene ID | 158 |
|---|
| MGI ID | 96112 |
|---|
| Rat chromosome position | 8q22 |
|---|
| RGD ID | 2801 |
|---|