Hmbs Gene Summary [Mouse]
Enables hydroxymethylbilane synthase activity. Involved in heme A biosynthetic process; heme B biosynthetic process; and heme O biosynthetic process. Is active in cytosol. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system; and respiratory system. Used to study acute intermittent porphyria. 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 2025]
Details
| Type | Protein Coding |
| Official Symbol | Hmbs |
| Official Name | hydroxymethylbilane synthase [Source:MGI Symbol;Acc:MGI:96112] |
| Ensembl ID | ENSMUSG00000032126 |
| Bio databases IDs | |
| Aliases | hydroxymethylbilane synthase |
| Synonyms | ENCEP, hemC, hydroxymethylbilane synthase, LENCEP, PBG-D, PORC, UPS, URO-S, Uros1 |
| Species | Mouse, Mus musculus |
| 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 mouse 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 mouse 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