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 enable procollagen-proline 3-dioxygenase activity. Predicted to be involved in collagen metabolic process. Predicted to be active in endoplasmic reticulum. Is expressed in notochord; pectoral fin musculature; and splanchnocranium. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 8. 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