TPSAB1
Tryptase Alpha/Beta 1: A key mast cell serine protease involved in allergic and inflammatory disorders
Gene Information Card
| Symbol | TPSAB1 |
|---|---|
| Full Name | Tryptase Alpha/Beta 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 7177 ncbi.nlm.nih.gov/gene/7177 |
| Ensembl ID | ENSG00000197253 |
| UniProt ID | Q15661 |
| OMIM ID | 191080 |
| HGNC ID | 12018 |
| Aliases | Tryptase-1, TPS1, TPS2, TPSB1, alpha-tryptase, beta-tryptase |
Description
TPSAB1 encodes tryptase alpha/beta 1, a serine protease predominantly expressed in mast cells. It is involved in allergic responses, inflammation, and tissue remodeling. The gene is located on chromosome 16p13.3 and is part of the tryptase gene family. Increased copy number of TPSAB1 is associated with hereditary alpha-tryptasemia (HαT), a condition characterized by elevated serum tryptase levels and multisystem symptoms including anaphylaxis, dysautonomia, and connective tissue abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Alpha-Tryptasemia (HαT) | Increased TPSAB1 copy number leads to elevated tryptase levels, causing mast cell activation and multisystem symptoms. | ClinVar, OMIM |
| Mastocytosis | TPSAB1 mutations may contribute to mast cell proliferation and activation. | ClinVar, OMIM |
| Anaphylaxis | Elevated tryptase from TPSAB1 duplication increases risk of severe allergic reactions. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 0.0 | Not detected |
| Skin | 0.0 | Not detected |
| Bone Marrow | 0.0 | Not detected |
| Mast Cells | High | Cell-specific expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HMC-1 (mast cell line) | High | Mast cell model |
| LAD2 (mast cell line) | High | Mast cell model |
| HEK293 | Low | Non-mast cell expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Gene duplication (copy number gain) | Copy number variation | Common in HαT | Increased tryptase production and activity |
| Missense variants | Single nucleotide variant | Rare | Altered enzymatic activity |
Mutation functional classification
Loss of Function (LOF)
Not reported for TPSAB1; loss-of-function is not associated with known phenotypes.
Gain of Function (GOF)
Increased copy number (duplication) leads to gain-of-function via elevated tryptase levels, causing hereditary alpha-tryptasemia.
Dominant Negative (DN)
Not reported for TPSAB1.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity | • proteolysis |
| • mast cell degranulation | • extracellular matrix disassembly |
| • inflammatory response |
Pathways
• Mast cell activation
• Tryptase-mediated signaling
• Allergic inflammation
Protein Summary
Tryptase alpha/beta 1 is a 30.8 kDa serine protease stored in mast cell granules. It is released upon degranulation and cleaves substrates such as fibrinogen, neuropeptides, and protease-activated receptors (PARs). The protein exists as a tetramer and is inhibited by endogenous serine protease inhibitors. Elevated levels due to TPSAB1 duplication are diagnostic for hereditary alpha-tryptasemia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TPSAB1 Knockout HEK293 Cell Line | EDJ-KQ5959 | Human | 7177 | Details Get a Quote |
| TPSAB1 Knockout HeLa Cell Line | EDJ-KQ54688 | Human | 7177 | Details Get a Quote |
| TPSAB1 Knockout A-549 Cell Line | EDJ-KQ63173 | Human | 7177 | Details Get a Quote |
| TPSAB1 Knockout HCT 116 Cell Line | EDJ-KQ71644 | Human | 7177 | Details Get a Quote |
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