| Gene Information | |
|---|---|
| Gene Name | PBGD |
| Organism | Homo sapiens (Human) |
| Gene Length | 361 |
| Protein Names | Porphobilinogen deaminase (PBG-D) (EC 2.5.1.61) (Hydroxymethylbilane synthase) (HMBS) (Pre-uroporphyrinogen synthase) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | P08397 |
| Gene Card | HMBS |
| Uniprot ID | P08397 |
| Pfam | PF01379; PF03900 |
| In ASD | yes |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | [Isoform 1]: Is ubiquitously expressed. {ECO:0000269|PubMed:3422427}.; [Isoform 2]: Is found only in erythroid cells. {ECO:0000269|PubMed:3422427}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 3ECR (X-ray 2.18A ) 3EQ1 (X-ray 2.80A ) 5M6R (X-ray 2.73A ) 5M7F (X-ray 2.78A ) 7AAJ (X-ray 1.80A ) 7AAK (X-ray 1.70A ) 7CCX (X-ray 1.84A ) 7CCY (X-ray 2.40A ) 7CCZ (X-ray 1.79A ) 7CD0 (X-ray 2.31A ) |
| DBSNP | rs189159450 rs998842815 rs118204103 rs118204104 rs118204105 rs974712040 rs118204106 rs761004837 rs118204119 rs150763621 rs1946187914 rs118204107 rs1165046276 rs118204094 rs551209435 rs118204098 rs118204095 rs118204101 rs118204096 rs575222284 rs118204108 rs536814318 rs34413634 rs118204109 rs914335144 rs1007859875 rs772471000 rs1205219549 rs118204116 rs1261947877 rs118204110 rs142459647 rs1946295991 rs118204099 rs118204111 rs118204112 rs118204113 rs118204114 rs118204115 rs990831395 rs1334178100 rs1057521126 |
| Subcellular location [CC] | Cytoplasm {ECO:0000305}. |
| Mouse PG classification | NA |
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