Gene
hmbsb
- ID
- ZDB-GENE-050522-491
- Name
- hydroxymethylbilane synthase, b
- Symbol
- hmbsb Nomenclature History
- Previous Names
-
- hmbsl
- id:ibd5004
- im:7140060
- zgc:110690 (1)
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to enable hydroxymethylbilane synthase activity. Predicted to be involved in heme biosynthetic process. Predicted to act upstream of or within peptidyl-pyrromethane cofactor linkage and porphyrin-containing compound biosynthetic process. Predicted to be active in cytoplasm. Is expressed in hematopoietic system; mesoderm; and post-vent region. Human ortholog(s) of this gene implicated in acute intermittent porphyria and sickle cell anemia. Orthologous to human HMBS (hydroxymethylbilane synthase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7140060 (11 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| acute intermittent porphyria | Alliance | Porphyria, acute intermittent | 176000 |
| acute intermittent porphyria | Alliance | Porphyria, acute intermittent, nonerythroid variant | 176000 |
| Encephalopathy, porphyria-related | 620704 | ||
| Leukoencephalopathy, porphyria-related | 620711 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR022419 | Porphobilinogen deaminase, dipyrromethane cofactor binding site |
| Domain | IPR022417 | Porphobilinogen deaminase, N-terminal |
| Domain | IPR022418 | Porphobilinogen deaminase, C-terminal |
| Family | IPR000860 | Porphobilinogen deaminase |
| Homologous_superfamily | IPR036803 | Porphobilinogen deaminase, C-terminal domain superfamily |
Domain Details Per Protein
| Protein | Length | Porphobilinogen deaminase | Porphobilinogen deaminase, C-terminal | Porphobilinogen deaminase, C-terminal domain superfamily | Porphobilinogen deaminase, dipyrromethane cofactor binding site | Porphobilinogen deaminase, N-terminal |
|---|---|---|---|---|---|---|
|
UniProtKB:Q503D2
|
360 | |||||
|
UniProtKB:A0A8M2B3W7
|
362 |
Interactions and Pathways
No data available
Plasmids
No data available