P4HA3
Prolyl 4-Hydroxylase Subunit Alpha 3
Gene Information Card
| Symbol | P4HA3 |
|---|---|
| Full Name | Prolyl 4-Hydroxylase Subunit Alpha 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.4 |
| NCBI Gene ID | 283208 ncbi.nlm.nih.gov/gene/283208 |
| Ensembl ID | ENSG00000149380 |
| UniProt ID | Q7Z4N8 |
| OMIM ID | 608983 |
| HGNC ID | 30166 |
| Aliases | P4H-alpha-3, P4HA3, prolyl 4-hydroxylase subunit alpha-3 |
Description
P4HA3 encodes the alpha subunit of prolyl 4-hydroxylase, an enzyme that catalyzes the hydroxylation of proline residues in collagen and other proteins. This modification is essential for proper collagen triple helix formation and stability. P4HA3 is induced under hypoxic conditions and is implicated in extracellular matrix remodeling, fibrosis, and tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Hypoxia-induced P4HA3 upregulation promotes collagen deposition and tumor microenvironment remodeling | PMID: 31570863 |
| Fibrosis | Increased P4HA3 expression contributes to excessive collagen synthesis in fibrotic tissues | PMID: 29719225 |
| Hypoxia-related disorders | HIF-1α-mediated transcriptional activation of P4HA3 under low oxygen | PMID: 22982236 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Lung | 8.3 | Low |
| Kidney | 6.7 | Low |
| Breast | 4.2 | Low |
| Skin | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| A549 | 9.8 | Lung adenocarcinoma cell line |
| MCF7 | 5.6 | Breast cancer cell line |
| HEK293 | 2.1 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | <0.01% | Unknown functional impact |
| c.1456C>T (p.Arg486Trp) | Missense | <0.01% | Potential loss of hydroxylase activity |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may reduce enzymatic activity, impairing collagen hydroxylation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • procollagen-proline 4-dioxygenase activity | • L-ascorbic acid binding |
| • iron ion binding | • protein hydroxylation |
| • collagen biosynthetic process | • response to hypoxia |
Pathways
• Collagen biosynthesis and modifying enzymes
• HIF-1 signaling pathway
• Extracellular matrix organization
Protein Summary
The P4HA3 protein is a 60 kDa alpha subunit that forms an active tetrameric prolyl 4-hydroxylase complex with the beta subunit (P4HB). It requires Fe2+, 2-oxoglutarate, and ascorbate for catalytic activity. The enzyme hydroxylates proline residues in the -X-Pro-Gly- motif of collagen chains, stabilizing the triple helix. P4HA3 is highly expressed in tissues with active collagen turnover and is upregulated in fibrotic and malignant conditions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| P4HA3 Knockout HEK293 Cell Line | EDJ-KQ14658 | Human | 283208 | Details Get a Quote |
| P4HA3 Knockout A-549 Cell Line | EDJ-KQ43715 | Human | 283208 | Details Get a Quote |
| P4HA3 Knockout HeLa Cell Line | EDJ-KQ44938 | Human | 283208 | Details Get a Quote |
| P4HA3 Knockout HCT 116 Cell Line | EDJ-KQ76231 | Human | 283208 | Details Get a Quote |
