Gene
p3h1
- ID
- ZDB-GENE-031010-35
- Name
- prolyl 3-hydroxylase 1
- Symbol
- p3h1 Nomenclature History
- Previous Names
-
- lepre1
- sb:cb953
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to have procollagen-proline 3-dioxygenase activity. Predicted to be involved in collagen metabolic process. Predicted to localize to endoplasmic reticulum. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 8. Is expressed in notochord; pectoral fin musculature; and splanchnocranium. Orthologous to human P3H1 (prolyl 3-hydroxylase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from Thisse et al., 2001
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb953 (10 images)
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Tonelli et al., 2020
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| osteogenesis imperfecta type 8 | Alliance | Osteogenesis imperfecta, type VIII | 610915 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Prolyl 3-hydroxylase | Prolyl 4-hydroxylase, alpha subunit | Prolyl 4-hydroxylase alpha subunit, Fe(2+) 2OG dioxygenase domain | Tetratricopeptide-like helical domain superfamily |
|---|---|---|---|---|---|
|
UniProtKB:A0A0R4I9E8
|
829 |
Interactions and Pathways
No data available
Plasmids
No data available