P3H1 Gene Summary [Human]
This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]
Details
| Type | Protein Coding |
| Official Symbol | P3H1 |
| Official Name | prolyl 3-hydroxylase 1 [Source:HGNC Symbol;Acc:HGNC:19316] |
| Ensembl ID | ENSG00000117385 |
| Bio databases IDs | |
| Aliases | prolyl 3-hydroxylase 1, growth suppressor 1, procollagen-proline 3-dioxygenase |
| Synonyms | 2410024C15Rik, GROS1, LEPRE1, OI8, prolyl 3-hydroxylase 1 |
| Species | Human, Homo sapiens |
| 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 human 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 human 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