{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"P01009","secondaryAccessions":["A6PX14","B2RDQ8","Q0PVP5","Q13672","Q53XB8","Q5U0M1","Q7M4R2","Q86U18","Q86U19","Q96BF9","Q96ES1","Q9P1P0","Q9UCE6","Q9UCM3"],"uniProtkbId":"A1AT_HUMAN","entryAudit":{"firstPublicDate":"1986-07-21","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"1996-10-01","entryVersion":293,"sequenceVersion":3},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Alpha-1-antitrypsin"}},"alternativeNames":[{"fullName":{"value":"Alpha-1 protease inhibitor"}},{"fullName":{"value":"Alpha-1-antiproteinase"}},{"fullName":{"value":"Serpin A1"}}],"contains":[{"recommendedName":{"fullName":{"value":"Short peptide from AAT"},"shortNames":[{"value":"SPAAT"}]}}],"flag":"Precursor"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:8941"}],"value":"SERPINA1"},"synonyms":[{"value":"AAT"},{"value":"PI"}],"orfNames":[{"value":"PRO0684"},{"value":"PRO2209"}]}],"comments":[{"texts":[{"value":"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"}],"commentType":"FUNCTION"},{"texts":[{"value":"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)"}],"commentType":"FUNCTION","molecule":"Short peptide from AAT"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11057674"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23826168"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31142615"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31358993"}],"value":"Interacts with CELA2A (PubMed:31358993). Interacts with ERGIC3 and LMAN1/ERGIC53 (PubMed:31142615). Interacts with PRSS1/trypsin (PubMed:11057674). Interacts with PRSS1/Trypsin (PubMed:11057674). The variants S and Z interact with CANX and PDIA3 (PubMed:23826168)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"P01009","intActId":"EBI-986224"},"interactantTwo":{"uniProtKBAccession":"P08246","geneName":"ELANE","intActId":"EBI-986345"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P01009","intActId":"EBI-986224"},"interactantTwo":{"uniProtKBAccession":"Q9Y282","geneName":"ERGIC3","intActId":"EBI-781551"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P01009","intActId":"EBI-986224"},"interactantTwo":{"uniProtKBAccession":"Q8N7X4","geneName":"MAGEB6","intActId":"EBI-6447163"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P01009","intActId":"EBI-986224"},"interactantTwo":{"uniProtKBAccession":"P01009","geneName":"SERPINA1","intActId":"EBI-986224"},"numberOfExperiments":7,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P01009","intActId":"EBI-986224"},"interactantTwo":{"uniProtKBAccession":"P43307","geneName":"SSR1","intActId":"EBI-714168"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P01009","intActId":"EBI-986224"},"interactantTwo":{"uniProtKBAccession":"O15393","geneName":"TMPRSS2","intActId":"EBI-12549863"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P01009","intActId":"EBI-986224"},"interactantTwo":{"uniProtKBAccession":"P00772","geneName":"CELA1","intActId":"EBI-986248"},"numberOfExperiments":2,"organismDiffer":true},{"interactantOne":{"uniProtKBAccession":"P01009","intActId":"EBI-986224"},"interactantTwo":{"uniProtKBAccession":"P71213","geneName":"espB","intActId":"EBI-2615322"},"numberOfExperiments":3,"organismDiffer":true},{"interactantOne":{"uniProtKBAccession":"P01009","intActId":"EBI-986224"},"interactantTwo":{"uniProtKBAccession":"P00760","geneName":"PRSS1","intActId":"EBI-986385"},"numberOfExperiments":5,"organismDiffer":true}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"value":"The S and Z allele are not secreted effectively and accumulate intracellularly in the endoplasmic reticulum"}]},"subcellularLocations":[{"location":{"value":"Secreted","id":"SL-0243"}},{"location":{"value":"Endoplasmic reticulum","id":"SL-0095"}}]},{"commentType":"SUBCELLULAR LOCATION","molecule":"Short peptide from AAT","subcellularLocations":[{"location":{"value":"Secreted, extracellular space, extracellular matrix","id":"SL-0111"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["P01009-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["P01009-2"],"sequenceIds":["VSP_028889"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"isoformIds":["P01009-3"],"sequenceIds":["VSP_028890"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23826168"}],"value":"Ubiquitous. Expressed in leukocytes and plasma"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"value":"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"}],"commentType":"DOMAIN"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12754519"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14760718"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15084671"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16263699"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16335952"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16622833"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19139490"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19159218"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19838169"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22171320"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23826168"}],"value":"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"}],"commentType":"PTM"},{"texts":[{"value":"Proteolytic processing may yield the truncated form that ranges from Asp-30 to Lys-418"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"3533918"}],"value":"(Microbial infection) Proteolytically processed by Staphylococcus aureus seryl, cysteinyl, and metallo-proteases"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"2901226"}],"value":"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%"}],"commentType":"POLYMORPHISM"},{"commentType":"DISEASE","disease":{"diseaseId":"Alpha-1-antitrypsin deficiency","diseaseAccession":"DI-02928","acronym":"A1ATD","description":"An autosomal recessive disorder characterized by serum levels of alpha-1-antitrypsin below the normal range, and an increased risk for developing pulmonary emphysema and, to a lesser extent, chronic liver disease. Environmental factors, particularly cigarette smoking, greatly increase the risk of emphysema at an earlier age.","diseaseCrossReference":{"database":"MIM","id":"613490"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10651487"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1608473"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1905728"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1967187"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"2227940"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"2254451"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"2309708"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"2339709"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"2390072"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25181470"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"2606478"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"2784123"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"2786335"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"3262617"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7977369"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8364590"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9569237"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"value":"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"}],"commentType":"MISCELLANEOUS"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay"}],"commentType":"MISCELLANEOUS","molecule":"Isoform 3"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the serpin family"}],"commentType":"SIMILARITY"},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"CAD62334.1","note":"Extended N-terminus.","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"CAD62585.1","note":"Extended N-terminus.","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"WEB RESOURCE","resourceName":"Wikipedia","resourceUrl":"https://en.wikipedia.org/wiki/Alpha_1-antitrypsin","ftp":false,"note":"Alpha-1 antitrypsin entry"}],"features":[{"type":"Signal","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":24,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1906855"}]},{"type":"Chain","location":{"start":{"value":25,"modifier":"EXACT"},"end":{"value":418,"modifier":"EXACT"}},"description":"Alpha-1-antitrypsin","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"6093867"}],"featureId":"PRO_0000032377"},{"type":"Peptide","location":{"start":{"value":375,"modifier":"EXACT"},"end":{"value":418,"modifier":"EXACT"}},"description":"Short peptide from AAT","featureId":"PRO_0000364030"},{"type":"Region","location":{"start":{"value":368,"modifier":"EXACT"},"end":{"value":392,"modifier":"EXACT"}},"description":"RCL"},{"type":"Site","location":{"start":{"value":352,"modifier":"EXACT"},"end":{"value":353,"modifier":"EXACT"}},"description":"(Microbial infection) Cleavage; by Staphylococcus aureus aureolysin/Aur","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"3533918"}]},{"type":"Site","location":{"start":{"value":354,"modifier":"EXACT"},"end":{"value":355,"modifier":"EXACT"}},"description":"(Microbial infection) Cleavage; by Staphylococcus aureus serine and cysteine proteinases","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"3533918"}]},{"type":"Site","location":{"start":{"value":382,"modifier":"EXACT"},"end":{"value":383,"modifier":"EXACT"}},"description":"Reactive bond"},{"type":"Modified residue","location":{"start":{"value":38,"modifier":"EXACT"},"end":{"value":38,"modifier":"EXACT"}},"description":"Phosphoserine; by FAM20C","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26091039"}]},{"type":"Modified residue","location":{"start":{"value":256,"modifier":"EXACT"},"end":{"value":256,"modifier":"EXACT"}},"description":"S-cysteinyl cysteine"},{"type":"Modified residue","location":{"start":{"value":383,"modifier":"EXACT"},"end":{"value":383,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"24275569"}]},{"type":"Glycosylation","location":{"start":{"value":70,"modifier":"EXACT"},"end":{"value":70,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) 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