InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SERPINA1

Summary

InnateDB Protein

IDBP-295473.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SERPINA1

Protein Name

serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1

Synonyms

A1A; A1AT; AAT; alpha1AT; PI; PI1; PRO2275;

Species

Homo sapiens

Ensembl Protein

ENSP00000386094

InnateDB Gene

IDBG-18174 (SERPINA1)

Protein Structure

UniProt Annotation

Function

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).

Subcellular Localization

Secreted. Endoplasmic reticulum. Note=The S and Z allele are not secreted effectively and accumulate intracellularly in the endoplasmic reticulum.Short peptide from AAT: Secreted, extracellular space, extracellular matrix.

Disease Associations

Alpha-1-antitrypsin deficiency (A1ATD) [MIM:613490]: 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. {ECO:0000269PubMed:1905728, ECO:0000269PubMed:2227940, ECO:0000269PubMed:2390072}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous. Expressed in leukocytes and plasma. {ECO:0000269PubMed:23826168}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 45 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	45 [view]
Protein-Protein	37 [view]
Protein-DNA	8 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001948	glycoprotein binding
GO:0002020	protease binding
GO:0004867	serine-type endopeptidase inhibitor activity
GO:0005515	protein binding
GO:0042802	identical protein binding

Biological Process

GO:0002576	platelet degranulation
GO:0006953	acute-phase response
GO:0007596	blood coagulation
GO:0010951	negative regulation of endopeptidase activity
GO:0030162	regulation of proteolysis
GO:0030168	platelet activation

Cellular Component

GO:0005576	extracellular region
GO:0005578	proteinaceous extracellular matrix
GO:0005615	extracellular space
GO:0005783	endoplasmic reticulum
GO:0005794	Golgi apparatus
GO:0031093	platelet alpha granule lumen
GO:0070062	extracellular vesicular exosome