SERPINA3 Gene Summary [Human]
The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. Polymorphisms in this protein appear to be tissue specific and influence protease targeting. Variations in this protein's sequence have been implicated in Alzheimer's disease, and deficiency of this protein has been associated with liver disease. Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmonary disease. [provided by RefSeq, Jun 2020]
Details
| Type | Processed Transcript |
| Official Symbol | SERPINA3 |
| Official Name | serpin family A member 3 [Source:HGNC Symbol;Acc:HGNC:16] |
| Ensembl ID | ENSG00000196136 |
| Bio databases IDs | |
| Aliases | serpin family A member 3, alpha-1 antichymotrypsin |
| Synonyms | AACT, ACT, alpha1 ACT, Anti-chymotrypsin, GIG24, GIG25, Serpina3n, serpin family A member 3, α 1 antichymotrypsin |
| 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 SERPINA3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SERine Proteinase INhibitors (serpin) family
- serine protease inhibitor activity
- active site
- protein binding
- DNA binding
- Serpin (serine protease inhibitor)
- reactive serpin loop
Pathways
Biological processes and signaling networks where the SERPINA3 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
- epithelial cancer
- hepatocellular carcinoma
- liver cancer
- Alzheimer disease
- frontotemporal dementia with parkinsonism
- COVID-19
- organismal death
- Huntington disease
- myasthenia gravis
- corticobasal degeneration
role in cell
- phosphorylation in
- expression in
- apoptosis
- proliferation
- cell viability
- migration
- cell death
- deposition
- formation
- chemotaxis
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
- secretory granule lumen
- azurophil granule lumen
- cellular membrane
- Nucleus
- cytosol
- alpha granules
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SERPINA3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- inflammatory response
- negative regulation of endopeptidase activity
- maintenance of gastrointestinal epithelium
- regulation of lipid metabolic process
- acute-phase response
Cellular Component
Where in the cell the gene product is active
- platelet alpha granule lumen
- nucleus
- extracellular space
- extracellular vesicular exosome
- blood microparticle
- secretory granule lumen
- extracellular region
- azurophil granule lumen
Molecular Function
What the gene product does at the molecular level
- DNA binding
- serine-type endopeptidase inhibitor activity
- protein binding