alpha 1 Antitrypsin est un gène codé par le symbole SERPINA1. D'autres noms incluent: Alpha-1-antitrypsin; Alpha-1 protease inhibitor; Alpha-1-antiproteinase; Serpin A1; SERPINA1; AAT; PI. alpha 1 Antitrypsin a une masse de 46.74kDa, une longueur d'acide aminé de 418, et est impliqué dans Alpha-1-antitrypsin deficiency.
Nous proposons 39 des anticorps contre alpha 1 Antitrypsin, élevé dans Lapin, Souris et Chèvre, qui sont appropriés pour le WB, IHC, ELISA et ICC/IF avec des échantillons dérivés de Humain, Souris, Rat et Porcin.
Informations sur les Gènes et les Protéines
Résumé 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.
Résumé 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.
Spécificité tissulaire
Ubiquitous. Expressed in leukocytes and plasma.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the serpin family.
Modification post-traductionnelle
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.
Localisation cellulaire
Secreted. Endoplasmic reticulum.
The S and Z allele are not secreted effectively and accumulate intracellularly in the endoplasmic reticulum.
