CMA1 Gene - Mast Cell Chymase 1
A serine protease involved in inflammation, tissue remodeling, and cardiovascular disease.
Gene Information Card
| Symbol | CMA1 |
|---|---|
| Full Name | Chymase 1 (mast cell) |
| Gene Type | Protein coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 1215 ncbi.nlm.nih.gov/gene/1215 |
| Ensembl ID | ENSG00000100888 |
| UniProt ID | P23946 |
| OMIM ID | 118938 |
| HGNC ID | 2097 |
| Aliases | CYH, MCT1, chymase |
Description
The CMA1 gene encodes chymase 1, a serine protease stored in the secretory granules of mast cells. Upon release, chymase cleaves angiotensin I to angiotensin II, degrades extracellular matrix components, and activates cytokines and growth factors. It plays a key role in inflammation, tissue remodeling, and cardiovascular pathology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiovascular disease | Chymase converts angiotensin I to angiotensin II, promoting vasoconstriction and fibrosis. | PMID: 10880373 |
| Allergic asthma | Chymase degrades bronchial extracellular matrix and activates pro-inflammatory mediators. | PMID: 15128702 |
| Systemic sclerosis | Chymase contributes to fibrosis by activating TGF-beta and collagen deposition. | PMID: 19450527 |
| Coronary artery disease | Increased chymase activity in atherosclerotic plaques. | PMID: 15668368 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.3 | Medium |
| Lung | 8.7 | Medium |
| Heart | 6.5 | Low |
| Spleen | 4.2 | Low |
| Small intestine | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HMC-1 (human mast cell line) | 45.2 | High expression |
| LAD2 (mast cell line) | 38.9 | High expression |
| THP-1 (monocyte) | 0.5 | No significant expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214G>A (p.Gly72Arg) | Missense | 0.001% | Reduced enzymatic activity |
| c.449C>T (p.Thr150Met) | Missense | 0.002% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
c.214G>A (p.Gly72Arg) reduces chymase 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)
| • serine-type endopeptidase activity (GO:0004252) | • extracellular region (GO:0005576) |
| • proteolysis (GO:0006508) | • inflammatory response (GO:0006954) |
| • collagen catabolic process (GO:0030574) |
Pathways
• Angiotensin II generation via chymase (Reactome: R-HSA-2022377)
• Mast cell degranulation (Reactome: R-HSA-114608)
Protein Summary
Chymase 1 is a 30 kDa serine protease composed of 247 amino acids. It is stored in mast cell secretory granules and released upon activation. The enzyme cleaves angiotensin I to angiotensin II, degrades fibronectin and collagen, and activates interleukin-1 beta and stem cell factor. It is implicated in cardiovascular remodeling, allergic inflammation, and fibrosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CMA1 Knockout HEK293 Cell Line | EDJ-KQ4296 | Human | 1215 | Details Get a Quote |
| CMA1 Knockout HeLa Cell Line | EDJ-KQ52929 | Human | 1215 | Details Get a Quote |
| CMA1 Knockout A-549 Cell Line | EDJ-KQ61397 | Human | 1215 | Details Get a Quote |
| CMA1 Knockout HCT 116 Cell Line | EDJ-KQ69892 | Human | 1215 | Details Get a Quote |
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