P3H3 (Prolyl 3-Hydroxylase 3)
Gene encoding a member of the prolyl 3-hydroxylase family involved in collagen modification and bone development
Gene Information Card
| Symbol | P3H3 |
|---|---|
| Full Name | prolyl 3-hydroxylase 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 10536 ncbi.nlm.nih.gov/gene/10536 |
| Ensembl ID | ENSG00000111224 |
| UniProt ID | Q8IVL6 |
| OMIM ID | 610181 |
| HGNC ID | 19318 |
| Aliases | Leprel2, LEPREL2, P3H3, prolyl 3-hydroxylase 3 |
Description
P3H3 encodes prolyl 3-hydroxylase 3, an enzyme that hydroxylates proline residues in collagen chains, contributing to proper collagen folding and stability. It is part of the prolyl 3-hydroxylase family and is implicated in bone development and connective tissue disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteogenesis imperfecta type XXVII | Loss-of-function mutations impair collagen hydroxylation, leading to brittle bones | ClinVar, OMIM |
| Bone fragility disorder | Defective collagen modification due to P3H3 variants | ClinVar |
| Connective tissue disease | Altered collagen stability and extracellular matrix integrity | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone | 12.3 | Medium |
| Cartilage | 9.8 | Medium |
| Skin | 7.5 | Low |
| Lung | 6.2 | Low |
| Heart | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Osteoblasts | 15.2 | High expression |
| Chondrocytes | 11.0 | Medium expression |
| Fibroblasts | 8.5 | Low expression |
| HEK293 | 3.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358*) | Nonsense | <0.01% | Loss of function, associated with osteogenesis imperfecta |
| c.1543G>A (p.Gly515Arg) | Missense | <0.01% | Impaired hydroxylase activity |
| c.2020_2021del (p.Leu674fs) | Frameshift | <0.01% | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, reducing collagen hydroxylation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described for P3H3.
View complete mutation data：
Gene Ontology (GO)
| • prolyl 3-hydroxylase activity | • collagen binding |
| • endoplasmic reticulum lumen | • protein hydroxylation |
| • peptidyl-proline hydroxylation |
Pathways
• Collagen biosynthesis and modifying enzymes
• Endoplasmic reticulum protein processing
Protein Summary
Prolyl 3-hydroxylase 3 is a 708-amino acid protein localized to the endoplasmic reticulum. It catalyzes the 3-hydroxylation of proline residues in collagen alpha chains, a modification critical for triple helix stability. The protein contains a tetratricopeptide repeat domain and is expressed in bone and cartilage.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| P3H3 Knockout HEK293 Cell Line | EDJ-KQ50982 | Human | 10536 | Details Get a Quote |
| P3H3 Knockout HeLa Cell Line | EDJ-KQ55424 | Human | 10536 | Details Get a Quote |
| P3H3 Knockout A-549 Cell Line | EDJ-KQ63903 | Human | 10536 | Details Get a Quote |
| P3H3 Knockout HCT 116 Cell Line | EDJ-KQ72362 | Human | 10536 | Details Get a Quote |
