Hmbs Gene Summary [Rat]
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 axon; condensed chromosome; and perinuclear region of cytoplasm. 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, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Hmbs |
| Official Name | hydroxymethylbilane synthase [Source:RGD Symbol;Acc:2801] |
| Ensembl ID | ENSRNOG00000010390 |
| Bio databases IDs | |
| Aliases | hydroxymethylbilane synthase |
| Synonyms | ENCEP, hemC, hydroxymethylbilane synthase, LENCEP, PBG-D, PORC, UPS, URO-S, Uros1 |
| Species | Rat, Rattus norvegicus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in rat Hmbs often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Porphobilinogen deaminase, dipyromethane cofactor binding domain
- uroporphyrinogen-III synthase
- binding protein
- Porphobilinogen deaminase, C-terminal domain
- Type 2 periplasmic binding fold superfamily
- enzyme
- protein binding
- hydroxymethylbilane synthase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- nonerythroid variant acute intermittent porphyria
- acute intermittent porphyria
- porphyria-related leukoencephalopathy
- porphyria-related encephalopathy
regulates
- porphyrin
- heme a
- heme
- protoporphyrin IX
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- nuclear fraction
- perinuclear region
- Nucleus
- cytosol
- chromosome
- sister chromatids
- axons
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the rat Hmbs gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- heme O biosynthetic process
- heme biosynthetic process
- heme a biosynthetic process
- protoporphyrinogen IX biosynthetic process
- heme b biosynthetic process
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding
- hydroxymethylbilane synthase activity