SERPINA1 Gene Summary [Human]
The protein encoded by this gene is a serine protease inhibitor belonging to the serpin superfamily whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. This protein is produced in the liver, the bone marrow, by lymphocytic and monocytic cells in lymphoid tissue, and by the Paneth cells of the gut. Defects in this gene are associated with chronic obstructive pulmonary disease, emphysema, and chronic liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2020]
Details
| Type | Protein Coding |
| Official Symbol | SERPINA1 |
| Official Name | serpin family A member 1 [Source:HGNC Symbol;Acc:HGNC:8941] |
| Ensembl ID | ENSG00000197249 |
| Bio databases IDs | |
| Aliases | serpin family A member 1, protease inhibitor 1, anti-elastase, alpha-1 antitrypsin, alpha-1 proteinase inhibitor |
| Synonyms | A1A, A1AT, A1-PI, AAT, alpha 1 antiprotease, Alpha-1-antiproteinase, alpha-1-antitrypsin, alpha-1-antitrypsin isomer 1, alpha-1-antitrypsin isomer 2, alpha1 AT, alpha-1 MP, alpha1-PI, alpha1 protease inhibitor, alpha-1-proteinase inhibitor, antitrypsin, aralast, nNIF, PI, PI1, PRO2275, serpin family A member 1, Spi1, trypsin inhibitor, alpha 1-antitrypsin, trypsin inhibitor, α 1-antitrypsin, α 1 antiprotease, α-1-antiproteinase, α-1-antitrypsin, α-1-antitrypsin isomer 1, α-1-antitrypsin isomer 2, α-1 MP, α-1-proteinase inhibitor |
| Species | Human, Homo sapiens |
| Orthologies |
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 SERPINA1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- endopeptidase inhibitor
- N-linked glycosylation site
- protease binding
- SERine Proteinase INhibitors (serpin) family
- serine protease inhibitor activity
- hinge domain
- protein binding
- identical protein binding
- Serpin (serine protease inhibitor)
- reactive serpin loop
Pathways
Biological processes and signaling networks where the SERPINA1 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
- Parkinson disease
- hepatocellular carcinoma
- fibrosis
- liver cancer
- epithelial cancer
- metastasis
- acne
- alpha-1-antitrypsin deficiency
- Alzheimer disease
- hepatic fibrosis
role in cell
- expression in
- activation in
- phosphorylation in
- proliferation
- production in
- migration
- formation
- formation in
- chemotaxis
- number
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
- soluble fraction
- intracellular membrane-bounded organelle
- ficolin-1-rich granule lumen
- perinuclear region
- cellular membrane
- Nucleus
- Plasma Membrane
- Golgi Apparatus
- Endoplasmic Reticulum
- endoplasmic reticulum lumen
- alpha granules
- transport vesicles
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SERPINA1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of endopeptidase activity
- blood coagulation
- acute-phase response
Cellular Component
Where in the cell the gene product is active
- platelet alpha granule lumen
- endoplasmic reticulum lumen
- extracellular space
- extracellular vesicular exosome
- intracellular membrane-bounded organelle
- Golgi apparatus
- endoplasmic reticulum
- ER to Golgi transport vesicle
- extracellular region
- endoplasmic reticulum-Golgi intermediate compartment membrane
Molecular Function
What the gene product does at the molecular level
- serine-type endopeptidase inhibitor activity
- identical protein binding
- protein binding
- protease binding