Hmbs - hydroxymethylbilane synthase Gene
Also Known as PBGD; hemC; PBG-D; URO-S
Species: Rattus norvegicus
Summary
Enables several functions, including amine binding activity; hydroxymethylbilane synthase activity; and uroporphyrinogen-III synthase activity. Involved in several processes, including cellular response to dexamethasone stimulus; cellular response to lead ion; and response to estradiol. Located in several cellular components, including axon; cytosol; and perinuclear region of cytoplasm. Colocalizes with condensed chromosome. Biomarker of bilirubin metabolic disorder and liver carcinoma. Human ortholog(s) of this gene implicated in acute intermittent porphyria and sickle cell anemia. Orthologous to human HMBS (hydroxymethylbilane synthase). [provided by Alliance of Genome Resources, Apr 2022]
Hmbs Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_013168.2 | NP_037300.2 | porphobilinogen deaminase |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables amine binding |
IPI
IPI: Inferred from physical interaction
|
9344466 | RGD |
| enables carboxylic acid binding |
IPI
IPI: Inferred from physical interaction
|
9344466 | RGD |
| enables hydroxymethylbilane synthase activity |
IDA
IDA: Inferred from direct assay
|
593266 | RGD |
| enables hydroxymethylbilane synthase activity |
IMP
IMP: Inferred from mutant phenotype
|
18760440 | RGD |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
12917623 | RGD |
| enables uroporphyrinogen-III synthase activity |
IDA
IDA: Inferred from direct assay
|
6466301 | RGD |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in axon |
IDA
IDA: Inferred from direct assay
|
11202056 | RGD |
| located in condensed chromosome |
IDA
IDA: Inferred from direct assay
|
12917623 | RGD |
| located in perinuclear region of cytoplasm |
IDA
IDA: Inferred from direct assay
|
11202056 | RGD |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
porphobilinogen deaminase |
|
|