P3H4: Prolyl 3-Hydroxylase Family Member 4 (Inactive)
A non-enzymatic member of the prolyl 3-hydroxylase family involved in collagen biosynthesis and bone development.
Gene Information Card
| Symbol | P3H4 |
|---|---|
| Full Name | Prolyl 3-Hydroxylase Family Member 4 (Inactive) |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.33 |
| NCBI Gene ID | 10609 ncbi.nlm.nih.gov/gene/10609 |
| Ensembl ID | ENSG00000108474 |
| UniProt ID | Q9NPH5 |
| OMIM ID | 612438 |
| HGNC ID | 19318 |
| Aliases | SC65, LEPREL1, LEPREL4, P3H4 |
Description
P3H4 encodes a member of the prolyl 3-hydroxylase family, but the encoded protein lacks enzymatic activity due to absence of critical catalytic residues. It is a component of the collagen prolyl 3-hydroxylation complex and is involved in collagen biosynthesis and bone development. Mutations in P3H4 are associated with osteogenesis imperfecta type XX.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteogenesis imperfecta type XX | Loss-of-function mutations impair collagen prolyl 3-hydroxylation, leading to defective bone mineralization and fragility. | ClinVar, OMIM |
| Osteogenesis imperfecta | P3H4 variants disrupt collagen folding and cross-linking, causing brittle bone disease. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone | 12.5 | Medium |
| Cartilage | 10.3 | Medium |
| Lung | 8.7 | Low |
| Kidney | 6.2 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-HSC (bone marrow stromal) | 15.2 | High expression |
| MG-63 (osteosarcoma) | 11.8 | Medium expression |
| HEK 293 (embryonic kidney) | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.404G>A (p.Arg135Gln) | Missense | Rare | Likely loss of function; associated with osteogenesis imperfecta |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss of function; predicted to abolish translation |
| c.325C>T (p.Arg109Trp) | Missense | Rare | Uncertain significance; possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss variants that reduce or abolish P3H4 protein function, leading to defective collagen hydroxylation and osteogenesis imperfecta.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • prolyl 3-hydroxylase activity (inactive) | • collagen binding |
| • endoplasmic reticulum lumen | • protein hydroxylation |
| • peptidyl-proline hydroxylation |
Pathways
• Collagen biosynthesis and modifying enzymes
• Prolyl 3-hydroxylation of collagen
Protein Summary
P3H4 is a 247-amino acid protein localized to the endoplasmic reticulum. It is a non-catalytic subunit of the prolyl 3-hydroxylase complex, which hydroxylates proline residues in collagen chains. The protein is essential for proper collagen folding and bone matrix integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| P3H4 Knockout HEK293 Cell Line | EDJ-KQ6482 | Human | 10609 | Details Get a Quote |
| P3H4 Knockout A-549 Cell Line | EDJ-KQ31977 | Human | 10609 | Details Get a Quote |
| P3H4 Knockout HCT 116 Cell Line | EDJ-KQ31978 | Human | 10609 | Details Get a Quote |
| P3H4 Knockout HeLa Cell Line | EDJ-KQ31979 | Human | 10609 | Details Get a Quote |
