Human Gene SERPINA1 (ENST00000404814.8) Description and Page Index
Description: 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. (from UniProt P01009) Gencode Transcript: ENST00000404814.8 Gencode Gene: ENSG00000197249.14 Transcript (Including UTRs) Position: hg38 chr14:94,378,389-94,390,662 Size: 12,274 Total Exon Count: 6 Strand: - Coding Region Position: hg38 chr14:94,378,449-94,383,237 Size: 4,789 Coding Exon Count: 4
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Comments and Description Text from UniProtKB
ID:A1AT_HUMAN DESCRIPTION: RecName: Full=Alpha-1-antitrypsin; AltName: Full=Alpha-1 protease inhibitor; AltName: Full=Alpha-1-antiproteinase; AltName: Full=Serpin A1; Contains: RecName: Full=Short peptide from AAT; Short=SPAAT; Flags: Precursor; 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. FUNCTION: Short peptide from AAT (SPAAT) is a 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). INTERACTION: P00760:- (xeno); NbExp=3; IntAct=EBI-986224, EBI-986385; P00772:CELA1 (xeno); NbExp=2; IntAct=EBI-986224, EBI-986248; P71213:espB (xeno); NbExp=3; IntAct=EBI-986224, EBI-2615322; SUBCELLULAR LOCATION: Secreted. SUBCELLULAR LOCATION: Short peptide from AAT: Secreted, extracellular space, extracellular matrix. TISSUE SPECIFICITY: Plasma. DOMAIN: The reactive center loop (RCL) extends out from the body of the protein and directs binding to the target protease. The protease cleaves the serpin at the reactive site within the RCL, establishing a covalent linkage between the carboxyl group of the serpin reactive site and the serine hydroxyl of the protease. The resulting inactive serpin-protease complex is highly stable. PTM: 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. PTM: Proteolytic processing may yield the truncated form that ranges from Asp-30 to Lys-418. POLYMORPHISM: The sequence shown is that of the M1V allele which is the most common form of PI (44 to 49%). Other frequent alleles are: M1A 20 to 23%; M2 10 to 11%; M3 14 to 19%. DISEASE: Defects in SERPINA1 are the cause of 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. MISCELLANEOUS: The aberrant form is found in the plasma of chronic smokers, and persists after smoking is ceased. It can still be found ten years after smoking has ceased. SIMILARITY: Belongs to the serpin family. SEQUENCE CAUTION: Sequence=CAD62334.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAD62585.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SERPINA1"; WEB RESOURCE: Name=Wikipedia; Note=Alpha-1 antitrypsin entry; URL="http://en.wikipedia.org/wiki/Alpha_1-antitrypsin";
ModBase Predicted Comparative 3D Structure on P01009
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