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
Expression
All Expression Data
6 figures from Thisse et al., 2001
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
4 figures from Tonelli et al., 2020
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With p3h1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
osteogenesis imperfecta type 8 Alliance Osteogenesis imperfecta, type VIII 610915
Associated With p3h1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR006620 Prolyl 4-hydroxylase, alpha subunit
Domain IPR044862 Prolyl 4-hydroxylase alpha subunit, Fe(2+) 2OG dioxygenase domain
Family IPR039575 Prolyl 3-hydroxylase
Homologous_superfamily IPR011990 Tetratricopeptide-like helical domain superfamily
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
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations