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 have hydroxymethylbilane synthase activity. Predicted to be involved in heme biosynthetic process. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in acute intermittent porphyria and sickle cell anemia. Is expressed in hematopoietic system; mesoderm; and post-vent region. 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