alpha 1 Antitrypsin è un gene codificato dal simbolo SERPINA1. Altri nomi includono: Alpha-1-antitrypsin; Alpha-1 protease inhibitor; Alpha-1-antiproteinase; Serpin A1; SERPINA1; AAT; PI. alpha 1 Antitrypsin ha una massa di 46.74kDa, una lunghezza di amminoacidi di 418, ed è implicato in Alpha-1-antitrypsin deficiency.
Offriamo 39 anticorpi contro alpha 1 Antitrypsin, allevati nel Coniglio, Topo e Capra, che sono adatti per WB, IHC, ELISA e ICC/IF con campioni derivati da Umano, Topo, Ratto e Maiale.
Informazioni su geni e proteine
Riepilogo UniProt
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.
Sommario di Entrez
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.
Specificità del tessuto
Ubiquitous. Expressed in leukocytes and plasma.
Coinvolgimento nella malattia
Alpha-1-antitrypsin deficiency: A disorder whose most common manifestation is emphysema, which becomes evident by the third to fourth decade. A less common manifestation of the deficiency is liver disease, which occurs in children and adults, and may result in cirrhosis and liver failure. Environmental factors, particularly cigarette smoking, greatly increase the risk of emphysema at an earlier age.
Somiglianze di sequenza
Belongs to the serpin family.
Modifica post-translazionale
N-glycosylated. Differential glycosylation produces a number of isoforms. N-linked glycan at Asn-107 is alternatively di-antennary, tri-antennary or tetra-antennary. The glycan at Asn-70 is di-antennary with trace amounts of tri-antennary. Glycan at Asn-271 is exclusively di-antennary. Structure of glycans at Asn-70 and Asn-271 is Hex5HexNAc4. The structure of the antennae is Neu5Ac(alpha1-6)Gal(beta1-4)GlcNAc attached to the core structure Man(alpha1-6)[Man(alpha1-3)]Man(beta1-4)GlcNAc(beta1-4)GlcNAc. Some antennae are fucosylated, which forms a Lewis-X determinant.
Posizione cellulare
Secreted. Endoplasmic reticulum.
The S and Z allele are not secreted effectively and accumulate intracellularly in the endoplasmic reticulum.
