CPA3 Gene - Carboxypeptidase A3
Mast cell-specific metallocarboxypeptidase involved in inflammation and cancer
Gene Information Card
| Symbol | CPA3 |
|---|---|
| Full Name | Carboxypeptidase A3 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q24 |
| NCBI Gene ID | 1359 ncbi.nlm.nih.gov/gene/1359 |
| Ensembl ID | ENSG00000163710 |
| UniProt ID | P15088 |
| OMIM ID | 114851 |
| HGNC ID | 2296 |
| Aliases | MC-CPA, CPA |
Description
CPA3 encodes carboxypeptidase A3, a mast cell-specific metallocarboxypeptidase that cleaves C-terminal aromatic or aliphatic amino acids. It is stored in secretory granules and released during mast cell degranulation, playing a key role in allergic responses, inflammation, and tissue remodeling. CPA3 is also implicated in certain cancers and fibrotic diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mastocytosis | Increased CPA3 expression in mast cells contributes to mediator release and symptoms | ClinVar, OMIM |
| Allergic asthma | CPA3 is upregulated in airway mast cells and linked to bronchoconstriction | NCBI Gene, PubMed |
| Systemic mastocytosis | CPA3 serves as a diagnostic marker for mast cell accumulation | OMIM, ClinVar |
| Colorectal cancer | CPA3 expression is altered in tumor stroma, affecting prognosis | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Skin | 8.3 | Medium |
| Small intestine | 6.7 | Low |
| Spleen | 4.2 | Low |
| Bone marrow | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HMC-1 (mast cell line) | 45.2 | High expression; model for mast cell studies |
| LAD2 (mast cell line) | 38.7 | High expression; used in allergy research |
| KU812 (basophilic) | 12.1 | Moderate expression |
| THP-1 (monocytic) | 0.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.331G>A (p.Gly111Arg) | Missense | <0.01% | Unknown; rare variant in population databases |
| c.544C>T (p.Arg182Trp) | Missense | <0.01% | Unknown; reported in ClinVar |
| c.789_790insA | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to cause loss of enzymatic activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • metallocarboxypeptidase activity (GO:0004181) | • proteolysis (GO:0006508) |
| • extracellular region (GO:0005576) | • secretory granule (GO:0030141) |
| • neutrophil degranulation (GO:0043312) |
Pathways
• ['Mast cell degranulation (Reactome: R-HSA-114608)']
• ['Innate immune system (Reactome: R-HSA-168249)']
Protein Summary
Carboxypeptidase A3 is a 417-amino acid zinc-dependent metalloprotease synthesized as a zymogen and activated by proteolytic cleavage. It is specifically expressed in mast cells and basophils, stored in secretory granules, and released upon activation. The enzyme preferentially hydrolyzes C-terminal aromatic residues (Phe, Tyr, Trp) and aliphatic residues (Leu, Ile, Met). CPA3 is a key effector in allergic inflammation and has been studied as a biomarker for mast cell disorders and certain cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPA3 Knockout HEK293 Cell Line | EDJ-KQ4335 | Human | 1359 | Details Get a Quote |
| CPA3 Knockout HeLa Cell Line | EDJ-KQ52968 | Human | 1359 | Details Get a Quote |
| CPA3 Knockout A-549 Cell Line | EDJ-KQ61436 | Human | 1359 | Details Get a Quote |
| CPA3 Knockout HCT 116 Cell Line | EDJ-KQ69932 | Human | 1359 | Details Get a Quote |
