PRTN3 Gene (Proteinase 3)
Serine protease associated with ANCA vasculitis and myeloid leukemia
Gene Information Card
| Symbol | PRTN3 |
|---|---|
| Full Name | Proteinase 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 5657 ncbi.nlm.nih.gov/gene/5657 |
| Ensembl ID | ENSG00000196411 |
| UniProt ID | P24158 |
| OMIM ID | 177020 |
| HGNC ID | 9495 |
| Aliases | AGP7, MBN, P29, PR-3, PR3 |
Description
PRTN3 encodes proteinase 3, a serine protease primarily expressed in neutrophils. It is a major autoantigen in ANCA-associated vasculitis (e.g., granulomatosis with polyangiitis) and is involved in myeloid differentiation. The enzyme cleases extracellular matrix proteins and regulates inflammatory cytokines.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Granulomatosis with polyangiitis (GPA) | Autoantibodies (c-ANCA) target PRTN3, leading to neutrophil activation and vascular inflammation | ClinVar, OMIM |
| Myeloid leukemia | PRTN3 overexpression in acute myeloid leukemia; potential target for immunotherapy | COSMIC, PubMed |
| Alpha-1 antitrypsin deficiency | PRTN3 activity unopposed due to SERPINA1 deficiency, contributing to tissue damage | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 8.2 | Low |
| Lung | 6.1 | Low |
| Blood (whole) | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HL-60 (promyelocytic) | 15.3 | High expression; used for differentiation studies |
| NB4 (acute promyelocytic leukemia) | 12.7 | High expression |
| K-562 (chronic myeloid leukemia) | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.751G>A (p.Gly251Arg) | Missense | <0.01% | Reduced enzymatic activity; ClinVar |
| c.802C>T (p.Arg268Trp) | Missense | <0.01% | Unknown significance; ClinVar |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of function; ClinVar |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Gly251Arg) reduce catalytic activity; start-loss variant abolishes translation.
Gain of Function (GOF)
Not well documented; overexpression in leukemia may contribute to pathogenesis.
Dominant Negative (DN)
No known dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity | • proteolysis |
| • extracellular matrix disassembly | • neutrophil degranulation |
| • defense response to bacterium |
Pathways
• Neutrophil degranulation (Reactome: R-HSA-6798695)
• Innate immune system (Reactome: R-HSA-168249)
Protein Summary
Proteinase 3 (PR3) is a 29 kDa serine protease stored in neutrophil azurophilic granules. It is released upon neutrophil activation, cleaving elastin, fibronectin, and cytokines. PR3 is the main target of c-ANCA in granulomatosis with polyangiitis and is aberrantly expressed in myeloid leukemias, making it a therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRTN3 Knockout HEK293 Cell Line | EDJ-KQ4807 | Human | 5657 | Details Get a Quote |
| PRTN3 Knockout HeLa Cell Line | EDJ-KQ54237 | Human | 5657 | Details Get a Quote |
| PRTN3 Knockout A-549 Cell Line | EDJ-KQ62729 | Human | 5657 | Details Get a Quote |
| PRTN3 Knockout HCT 116 Cell Line | EDJ-KQ71199 | Human | 5657 | Details Get a Quote |
