TPSAB1 Gene Summary [Human]
Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role in regulation of the mRNA stability. These genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. The alleles of this gene exhibit an unusual amount of sequence variation, such that the alleles were once thought to represent two separate genes, alpha and beta 1. Beta tryptases appear to be the main isoenzymes expressed in mast cells; whereas in basophils, alpha tryptases predominate. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | TPSAB1 |
| Official Name | tryptase alpha/beta 1 [Source:HGNC Symbol;Acc:HGNC:12019] |
| Ensembl ID | ENSG00000172236 |
| Bio databases IDs | |
| Aliases | tryptase alpha/beta 1, tryptase alpha II, tryptase beta I, tryptase-I, tryptase-II, tryptase-III, mast cell tryptase |
| Synonyms | Mast Cell Tryptase, TPS1, TPS2, TPSB1, TPSB2, Tryptase-2, TRYPTASE alpha, tryptase alpha/beta 1, Tryptase beta 1, TRYPTASE α, tryptase α/β 1, Tryptase β 1 |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TPSAB1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Trypsin-like serine protease
- trypsin
- Tryp_SPc
- serine-type peptidase
- tryptase
- peptidase
- Trypsin-like peptidase domain
- protein binding
- identical protein binding
Pathways
Biological processes and signaling networks where the TPSAB1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- diabetic nephropathy
- adenoma formation
- Ullrich congenital muscular dystrophy
- hereditary alpha tryptasemia syndrome
- renal clear cell adenocarcinoma
- renal clear cell cancer
- pruritus
- aldosterone producing adrenocortical adenoma
- early-onset preeclampsia
- eosinophilic esophagitis
role in cell
- activation
- proliferation
- disassembly
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- Cytoplasm
- secretory granules
- extracellular matrix
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TPSAB1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- extracellular matrix disassembly
- proteolysis
- defense response
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular region
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- serine-type peptidase activity
- serine-type endopeptidase activity