Aliases for SERPINA1 Gene
- Serpin Family A Member 1 2 3 5
- Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 1 2 3
- Protease Inhibitor 1 (Anti-Elastase), Alpha-1-Antitrypsin 2 3
- Alpha-1 Protease Inhibitor 3 4
- Alpha-1-Antiproteinase 3 4
- Serpin A1 3 4
- AAT 3 4
- PI 3 4
- Serine (Or Cysteine) Proteinase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 1 2
- Serine (Or Cysteine) Proteinase Inhibitor, Clade A, Member 1 3
External Ids for SERPINA1 Gene
Previous HGNC Symbols for SERPINA1 Gene
Previous GeneCards Identifiers for SERPINA1 Gene
The protein encoded by this gene is secreted and is a serine protease inhibitor whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Defects in this gene can cause emphysema or liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for SERPINA1 Gene
SERPINA1 (Serpin Family A Member 1) is a Protein Coding gene. Diseases associated with SERPINA1 include Emphysema Due To Aat Deficiency and Hemorrhagic Disease Due To Alpha-1-Antitrypsin Pittsburgh Mutation. Among its related pathways are Platelet activation, signaling and aggregation and FOXA1 transcription factor network. GO annotations related to this gene include identical protein binding and protease binding. An important paralog of this gene is ENSG00000273259.
UniProtKB/Swiss-Prot for SERPINA1 Gene
Inhibitor of serine proteases. Its primary target is elastase, but it also has a moderate affinity for plasmin and thrombin. Irreversibly inhibits trypsin, chymotrypsin and plasminogen activator. The aberrant form inhibits insulin-induced NO synthesis in platelets, decreases coagulation time and has proteolytic activity against insulin and plasmin.
Short peptide from AAT: reversible chymotrypsin inhibitor. It also inhibits elastase, but not trypsin. Its major physiological function is the protection of the lower respiratory tract against proteolytic destruction by human leukocyte elastase (HLE).