P3h1 Gene Summary [Mouse]
Predicted to enable procollagen-proline 3-dioxygenase activity. Acts upstream of or within collagen fibril organization; negative regulation of cell growth; and regulation of ossification. Predicted to be located in basement membrane; cytoplasm; and nucleus. Predicted to be active in endoplasmic reticulum. Is expressed in several structures, including alimentary system; genitourinary system; limb mesenchyme; sensory organ; and skeleton. Used to study osteogenesis imperfecta type 8. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 8. Orthologous to human P3H1 (prolyl 3-hydroxylase 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | P3h1 |
| Official Name | prolyl 3-hydroxylase 1 [Source:MGI Symbol;Acc:MGI:1888921] |
| Ensembl ID | ENSMUSG00000028641 |
| Bio databases IDs | |
| Aliases | prolyl 3-hydroxylase 1 |
| Synonyms | 2410024C15Rik, GROS1, LEPRE1, OI8, prolyl 3-hydroxylase 1 |
| 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 P3h1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- procollagen-proline 3-dioxygenase
- collagen binding
- enzyme
- protein binding
- 2OG-Fe(II) oxygenase superfamily
- Prolyl 4-hydroxylase alpha subunit homologues
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- colorectal cancer
- osteogenesis imperfecta
- osteogenesis imperfecta type VIII
- autosomal recessive osteogenesis imperfecta
- osteogenesis imperfecta type III
- SERPINH1 R222S mutation positive severe osteogenesis imperfecta
- androgenic alopecia
role in cell
- growth
- colony formation
- development
- organization
- ossification by
- ultrastructure
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- Plasma Membrane
- Golgi Apparatus
- Endoplasmic Reticulum
- endoplasmic reticulum lumen
- basement membrane
- glomerular basement membrane
- endothelial basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse P3h1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of protein secretion
- negative regulation of cell proliferation
- chaperone-mediated protein folding
- positive regulation of neuron projection development
- protein stabilization
- protein folding
- protein hydroxylation
- bone development
- collagen metabolic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular vesicular exosome
- membrane
- macromolecular complex
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- L-ascorbic acid binding
- protein binding
- collagen binding
- iron ion binding
- procollagen-proline 3-dioxygenase activity