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UniProtKB - P01009 (A1AT_HUMAN)

Entry version 268 (10 Feb 2021)
Sequence version 3 (01 Oct 1996)
Previous versions | rss
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Protein

Alpha-1-antitrypsin

Gene

SERPINA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.
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).

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.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei352 – 353(Microbial infection) Cleavage; by Staphylococcus aureus aureolysin/Aur1 Publication2
Sitei354 – 355(Microbial infection) Cleavage; by Staphylococcus aureus serine and cysteine proteinases1 Publication2
Sitei382 – 383Reactive bond2

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionProtease inhibitor, Serine protease inhibitor
Biological processAcute phase, Blood coagulation, Hemostasis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P01009

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-114608, Platelet degranulation
R-HSA-204005, COPII-mediated vesicle transport
R-HSA-381426, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-5694530, Cargo concentration in the ER
R-HSA-6798695, Neutrophil degranulation
R-HSA-8957275, Post-translational protein phosphorylation

SIGNOR Signaling Network Open Resource

More...SIGNORi		P01009

Protein family/group databases

MEROPS protease database

More...MEROPSi		I04.001

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Alpha-1-antitrypsinCurated
Alternative name(s):
Alpha-1 protease inhibitor
Alpha-1-antiproteinase
Serpin A1
Cleaved into the following chain:
Short peptide from AAT
Short name:
SPAAT
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SERPINA1Imported
Synonyms:AAT, PI
ORF Names:PRO0684, PRO2209
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:8941, SERPINA1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		107400, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P01009

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000197249.12

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum, Extracellular matrix, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Alpha-1-antitrypsin deficiency (A1ATD)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi382M → V: Oxidation-resistant inhibitor of therapeutic importance. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		5265

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		SERPINA1

MalaCards human disease database

More...MalaCardsi		SERPINA1
MIMi613490, phenotype

Open Targets

More...OpenTargetsi		ENSG00000197249

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		60, Alpha-1-antitrypsin deficiency
178396, Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA35509

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P01009, Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB01998, 2-[3,4-Dihydroxy-2-Hydroxymethyl-5-(2-Hydroxy-Nonyl)-Tetrahydro-Furan-2-Yloxy]-6-Hydroxymethyl-Tetra Hydro-Pyran-3,4,5-Triol
DB09130, Copper
DB03345, Mercaptoethanol
DB14007, Pentetic acid
DB05961, PPL-100
DB05481, Recombinant alpha 1-antitrypsin
DB01593, Zinc
DB14487, Zinc acetate
DB14533, Zinc chloride
DB14548, Zinc sulfate, unspecified form

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SERPINA1

Domain mapping of disease mutations (DMDM)

More...DMDMi		1703025

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 241 PublicationAdd BLAST24
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000003237725 – 418Alpha-1-antitrypsin1 PublicationAdd BLAST394
<p>This subsection of the 'PTM / Processing' section describes the position and length of an active peptide in the mature protein.<p><a href='/help/peptide' target='_top'>More...</a></p>PeptideiPRO_0000364030375 – 418Short peptide from AATAdd BLAST44

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei38Phosphoserine; by FAM20C1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi70N-linked (GlcNAc...) (complex) asparagine9 Publications1
Glycosylationi107N-linked (GlcNAc...) (complex) asparagine5 Publications1
Modified residuei256S-cysteinyl cysteine1
Glycosylationi271N-linked (GlcNAc...) (complex) asparagine9 Publications1
Modified residuei383PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

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.11 Publications
Proteolytic processing may yield the truncated form that ranges from Asp-30 to Lys-418.
(Microbial infection) Proteolytically processed by Staphylococcus aureus seryl, cysteinyl, and metallo-proteases.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

The CPTAC Assay portal

More...CPTACi		CPTAC-651
non-CPTAC-1063

Encyclopedia of Proteome Dynamics

More...EPDi		P01009

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P01009

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P01009

MaxQB - The MaxQuant DataBase

More...MaxQBi		P01009

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P01009

PeptideAtlas

More...PeptideAtlasi		P01009

PRoteomics IDEntifications database

More...PRIDEi		P01009

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		51300 [P01009-1]
51301 [P01009-2]
51302 [P01009-3]

2D gel databases

DOSAC-COBS 2D-PAGE database

More...DOSAC-COBS-2DPAGEi		P01009

USC-OGP 2-DE database

More...OGPi		P01009

REPRODUCTION-2DPAGE

More...REPRODUCTION-2DPAGEi		IPI00553177
P01009

Two-dimensional polyacrylamide gel electrophoresis database from the Geneva University Hospital

More...SWISS-2DPAGEi		P01009

University College Dublin 2-DE Proteome Database

More...UCD-2DPAGEi		P01009

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		P01009

GlyConnect protein glycosylation platform

More...GlyConnecti		20, 67 N-Linked glycans (4 sites), 2 O-Linked glycans (1 site)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P01009, 7 sites, 30 N-linked glycans (3 sites), 2 O-linked glycans (3 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P01009

MetOSite database of methionine sulfoxide sites

More...MetOSitei		P01009

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P01009

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous. Expressed in leukocytes and plasma.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000197249, Expressed in liver and 219 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P01009, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P01009, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000197249, Tissue enriched (liver)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

The variants S and Z interact with CANX AND PDIA3.

Interacts with CELA2A (PubMed:31358993).

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		111283, 58 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P01009

Database of interacting proteins

More...DIPi		DIP-35493N

Protein interaction database and analysis system

More...IntActi		P01009, 40 interactors

Molecular INTeraction database

More...MINTi		P01009

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000416066

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P01009, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1418
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Biological Magnetic Resonance Data Bank

More...BMRBi		P01009

The Protein Circular Dichroism Data Bank

More...PCDDBi		P01009

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P01009

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P01009

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni368 – 392RCLAdd BLAST25

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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.

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the serpin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2392, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154493

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_023330_2_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P01009

Identification of Orthologs from Complete Genome Data

More...OMAi		PEVKFNK

Database for complete collections of gene phylogenies

More...PhylomeDBi		P01009

TreeFam database of animal gene trees

More...TreeFami		TF343201

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.30.39.10, 1 hit
3.30.497.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR023795, Serpin_CS
IPR023796, Serpin_dom
IPR000215, Serpin_fam
IPR036186, Serpin_sf
IPR042178, Serpin_sf_1
IPR042185, Serpin_sf_2

The PANTHER Classification System

More...PANTHERi		PTHR11461, PTHR11461, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00079, Serpin, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00093, SERPIN, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF56574, SSF56574, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00284, SERPIN, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P01009-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPSSVSWGIL LLAGLCCLVP VSLAEDPQGD AAQKTDTSHH DQDHPTFNKI 
        60         70         80         90        100
TPNLAEFAFS LYRQLAHQSN STNIFFSPVS IATAFAMLSL GTKADTHDEI 
       110        120        130        140        150
LEGLNFNLTE IPEAQIHEGF QELLRTLNQP DSQLQLTTGN GLFLSEGLKL 
       160        170        180        190        200
VDKFLEDVKK LYHSEAFTVN FGDTEEAKKQ INDYVEKGTQ GKIVDLVKEL 
       210        220        230        240        250
DRDTVFALVN YIFFKGKWER PFEVKDTEEE DFHVDQVTTV KVPMMKRLGM 
       260        270        280        290        300
FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL 
       310        320        330        340        350
ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP 
       360        370        380        390        400
LKLSKAVHKA VLTIDEKGTE AAGAMFLEAI PMSIPPEVKF NKPFVFLMIE 
       410 
QNTKSPLFMG KVVNPTQK
Length:418
Mass (Da):46,737
Last modified:October 1, 1996 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i7016555F273B7F16
GO
Isoform 2 (identifier: P01009-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     356-418: AVHKAVLTIDEKGTEAAGAMFLEAIPMSIPPEVKFNKPFVFLMIEQNTKSPLFMGKVVNPTQK → VRSP

Show »
Length:359
Mass (Da):40,263
Checksum:iD16A255538FB2945
GO
Isoform 3 (identifier: P01009-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     307-418: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:306
Mass (Da):34,755
Checksum:i15C708E6C25CE0C4
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A024R6I7A0A024R6I7_HUMAN
Alpha-1-antitrypsin
SERPINA1 hCG_2029168
418Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JRN3A0A0G2JRN3_HUMAN
Alpha-1-antitrypsin
SERPINA1
359Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V387G3V387_HUMAN
Alpha-1-antitrypsin
SERPINA1
117Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V544G3V544_HUMAN
Alpha-1-antitrypsin
SERPINA1
156Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V5R8G3V5R8_HUMAN
Alpha-1-antitrypsin
SERPINA1
92Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0B4J278A0A0B4J278_HUMAN
Alpha-1-antitrypsin
SERPINA1
144Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V2B9G3V2B9_HUMAN
Alpha-1-antitrypsin
SERPINA1
105Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V4I7G3V4I7_HUMAN
Alpha-1-antitrypsin
SERPINA1
22Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence CAD62334 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence CAD62585 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti12Missing in AAA51546 (PubMed:2985281).Curated1
Sequence conflicti23L → P in BAG38005 (PubMed:14702039).Curated1
Sequence conflicti26D → H AA sequence (PubMed:1906855).Curated1
Sequence conflicti39H → L AA sequence (PubMed:1906855).Curated1
Sequence conflicti61L → P in AAF29581 (Ref. 9) Curated1
Sequence conflicti96T → A in ABG73380 (PubMed:17650587).Curated1
Sequence conflicti139 – 140GN → DG in AAB59375 (PubMed:6319097).Curated2
Sequence conflicti174T → H in AAA51546 (PubMed:2985281).Curated1
Sequence conflicti229E → D in AAA51546 (PubMed:2985281).Curated1
Sequence conflicti273T → N in AAB59375 (PubMed:6319097).Curated1
Sequence conflicti280D → G in ABG73380 (PubMed:17650587).Curated1
Sequence conflicti326V → I in CAA25838 (PubMed:6387509).Curated1
Sequence conflicti410G → L AA sequence (PubMed:1406456).Curated1
Sequence conflicti414N → S AA sequence (PubMed:1406456).Curated1

<p>This subsection of the 'Sequence' section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement%5Fin%5Fdisease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

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%.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0069784S → L in Z-Wrexham. 1 Publication1
Natural variantiVAR_00697926D → A in V-Munich. 1 PublicationCorresponds to variant dbSNP:rs199422212EnsemblClinVar.1
Natural variantiVAR_05193837T → A. Corresponds to variant dbSNP:rs11558262Ensembl.1
Natural variantiVAR_00698058A → T in M5-Karlsruhe. 1 PublicationCorresponds to variant dbSNP:rs149319176Ensembl.1
Natural variantiVAR_00698163R → C in I. 1 PublicationCorresponds to variant dbSNP:rs28931570EnsemblClinVar.1
Natural variantiVAR_00698265L → P in M-Procida. 1 PublicationCorresponds to variant dbSNP:rs28931569EnsemblClinVar.1
Natural variantiVAR_00698369S → F in M6-Bonn. 1 PublicationCorresponds to variant dbSNP:rs199687431EnsemblClinVar.1
Natural variantiVAR_00698475Missing in M-Malton, M-Nichinan and M-Palermo; associated with very low serum levels of AAT; homozygosity for allele M-Malton may be associated with a risk for chronic emphysema or infantile liver cirrhosis. 4 Publications1
Natural variantiVAR_00698577S → F in S-Iiyama. 1 PublicationCorresponds to variant dbSNP:rs55819880EnsemblClinVar.1
Natural variantiVAR_00698684A → T in M6-Passau. 1 PublicationCorresponds to variant dbSNP:rs111850950EnsemblClinVar.1
Natural variantiVAR_00698791G → E in M-Mineral springs; causes reduced AAT secretion. 1 PublicationCorresponds to variant dbSNP:rs28931568EnsemblClinVar.1
Natural variantiVAR_00698892T → I in QO-Lisbon; deficient AAT with very low serum levels. Corresponds to variant dbSNP:rs1490133295Ensembl.1
Natural variantiVAR_011620109T → M in Z-Bristol; deficient AA; disrupts the N-glycosylation site N-107. 1 PublicationCorresponds to variant dbSNP:rs199422213EnsemblClinVar.1
Natural variantiVAR_006989112P → T in M5-Berlin. 1 PublicationCorresponds to variant dbSNP:rs886044322EnsemblClinVar.1
Natural variantiVAR_006990116I → N in QO-Ludwigshafen. 1 PublicationCorresponds to variant dbSNP:rs28931572EnsemblClinVar.1
Natural variantiVAR_006991125R → H in M2; associated with D-400. Corresponds to variant dbSNP:rs709932EnsemblClinVar.1
Natural variantiVAR_006992139G → S in QO-Newport. 1 PublicationCorresponds to variant dbSNP:rs11558261EnsemblClinVar.1
Natural variantiVAR_006993172G → R in V and M-Nichinan. 1 PublicationCorresponds to variant dbSNP:rs112030253EnsemblClinVar.1
Natural variantiVAR_006994172G → W in M2-Obernburg. 2 PublicationsCorresponds to variant dbSNP:rs112030253EnsemblClinVar.1
Natural variantiVAR_006995180Q → E in L-Frankfurt. 1 PublicationCorresponds to variant dbSNP:rs864622051EnsemblClinVar.1
Natural variantiVAR_036746190 – 198QGKIVDLVK → GFQNAILVR in Aberrant form. 9
Natural variantiVAR_006996228E → K in X. Corresponds to variant dbSNP:rs199422208EnsemblClinVar.1
Natural variantiVAR_006997237V → A in M1A and Z; associated with K-366 in Z. 4 PublicationsCorresponds to variant dbSNP:rs6647EnsemblClinVar.1
Natural variantiVAR_006998247R → C in F. 1 PublicationCorresponds to variant dbSNP:rs28929470EnsemblClinVar.1
Natural variantiVAR_006999280D → V in P-Duarte/P-Cardiff/P-Lowell; associated with H-415 in Y-Barcelona. 3 PublicationsCorresponds to variant dbSNP:rs121912714EnsemblClinVar.1
Natural variantiVAR_007000288E → V in S and T. 2 PublicationsCorresponds to variant dbSNP:rs17580EnsemblClinVar.1
Natural variantiVAR_009216305Missing in Basque. 1 Publication1
Natural variantiVAR_007001354S → F in S-Munich. 1 PublicationCorresponds to variant dbSNP:rs201788603EnsemblClinVar.1
Natural variantiVAR_007002360A → T in W-Bethesda. 1 PublicationCorresponds to variant dbSNP:rs1802959EnsemblClinVar.1
Natural variantiVAR_007003365D → N in P-St.Albans/P-Donauwoerth. 1 PublicationCorresponds to variant dbSNP:rs143370956EnsemblClinVar.1
Natural variantiVAR_007004366E → K in Z/Z-Augsburg/Z-Tun; associated with A-237 in Z. 3 PublicationsCorresponds to variant dbSNP:rs28929474EnsemblClinVar.1
Natural variantiVAR_007005382M → R in Pittsburgh; has antithrombin activity; inhibits factor VIIa activity; causes fatal bleeding diathesis. 3 PublicationsCorresponds to variant dbSNP:rs121912713EnsemblClinVar.1
Natural variantiVAR_007006386P → H in Sao Tome. 1 PublicationCorresponds to variant dbSNP:rs569384943Ensembl.1
Natural variantiVAR_007007386P → T in L-Offenbach. 1 PublicationCorresponds to variant dbSNP:rs12233Ensembl.1
Natural variantiVAR_007008387E → K in Christchurch. Corresponds to variant dbSNP:rs121912712EnsemblClinVar.1
Natural variantiVAR_007009393P → L in M-Heerlen. 1 PublicationCorresponds to variant dbSNP:rs199422209EnsemblClinVar.1
Natural variantiVAR_007010400E → D in M2 and M3; associated with H-125 in M2. 2 PublicationsCorresponds to variant dbSNP:rs1303EnsemblClinVar.1
Natural variantiVAR_007011415P → H in Y-Barcelona; associated with V-280. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_028890307 – 418Missing in isoform 3. 1 PublicationAdd BLAST112
Alternative sequenceiVSP_028889356 – 418AVHKA…NPTQK → VRSP in isoform 2. 1 PublicationAdd BLAST63

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
K01396 mRNA Translation: AAB59375.1
K02212 Genomic DNA Translation: AAB59495.1
X01683 mRNA Translation: CAA25838.1
M11465 mRNA Translation: AAA51546.1
J02619 Genomic DNA Translation: AAA51547.1
DQ682455 mRNA Translation: ABG73380.1
AM048838 Genomic DNA Translation: CAJ15161.1
AF113676 mRNA Translation: AAF29581.1
AF130068 mRNA Translation: AAG35496.1
BX161449 mRNA Translation: CAD61914.1
BX247968 mRNA Translation: CAD62306.1
BX248002 mRNA Translation: CAD62334.1 Different initiation.
BX248257 mRNA Translation: CAD62585.1 Different initiation.
AK315637 mRNA Translation: BAG38005.1
BT019455 mRNA Translation: AAV38262.1
BC011991 mRNA Translation: AAH11991.1
BC015642 mRNA Translation: AAH15642.1
J00064 Genomic DNA Translation: AAB59369.1
J00066, J00065 Genomic DNA Translation: AAB59370.1
J00067 Genomic DNA Translation: AAB59371.1
X02920 mRNA Translation: CAA26677.1
V00496 mRNA Translation: CAA23755.1
M26123 mRNA Translation: AAA51545.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS9925.1 [P01009-1]

Protein sequence database of the Protein Information Resource

More...PIRi		A21853, ITHU
A61391

NCBI Reference Sequences

More...RefSeqi		NP_000286.3, NM_000295.4 [P01009-1]
NP_001002235.1, NM_001002235.2 [P01009-1]
NP_001002236.1, NM_001002236.2 [P01009-1]
NP_001121172.1, NM_001127700.1 [P01009-1]
NP_001121173.1, NM_001127701.1 [P01009-1]
NP_001121174.1, NM_001127702.1 [P01009-1]
NP_001121175.1, NM_001127703.1 [P01009-1]
NP_001121176.1, NM_001127704.1 [P01009-1]
NP_001121177.1, NM_001127705.1 [P01009-1]
NP_001121178.1, NM_001127706.1 [P01009-1]
NP_001121179.1, NM_001127707.1 [P01009-1]
XP_016876859.1, XM_017021370.1 [P01009-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000355814; ENSP00000348068; ENSG00000197249 [P01009-1]
ENST00000393087; ENSP00000376802; ENSG00000197249 [P01009-1]
ENST00000393088; ENSP00000376803; ENSG00000197249 [P01009-1]
ENST00000402629; ENSP00000386094; ENSG00000197249 [P01009-2]
ENST00000404814; ENSP00000385960; ENSG00000197249 [P01009-1]
ENST00000437397; ENSP00000408474; ENSG00000197249 [P01009-1]
ENST00000440909; ENSP00000390299; ENSG00000197249 [P01009-1]
ENST00000448921; ENSP00000416066; ENSG00000197249 [P01009-1]
ENST00000449399; ENSP00000416354; ENSG00000197249 [P01009-1]
ENST00000489769; ENSP00000451525; ENSG00000197249 [P01009-3]
ENST00000636712; ENSP00000490054; ENSG00000197249 [P01009-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5265

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5265

UCSC genome browser

More...UCSCi		uc001ycx.5, human [P01009-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Wikipedia

Alpha-1 antitrypsin entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
K01396 mRNA Translation: AAB59375.1
K02212 Genomic DNA Translation: AAB59495.1
X01683 mRNA Translation: CAA25838.1
M11465 mRNA Translation: AAA51546.1
J02619 Genomic DNA Translation: AAA51547.1
DQ682455 mRNA Translation: ABG73380.1
AM048838 Genomic DNA Translation: CAJ15161.1
AF113676 mRNA Translation: AAF29581.1
AF130068 mRNA Translation: AAG35496.1
BX161449 mRNA Translation: CAD61914.1
BX247968 mRNA Translation: CAD62306.1
BX248002 mRNA Translation: CAD62334.1 Different initiation.
BX248257 mRNA Translation: CAD62585.1 Different initiation.
AK315637 mRNA Translation: BAG38005.1
BT019455 mRNA Translation: AAV38262.1
BC011991 mRNA Translation: AAH11991.1
BC015642 mRNA Translation: AAH15642.1
J00064 Genomic DNA Translation: AAB59369.1
J00066, J00065 Genomic DNA Translation: AAB59370.1
J00067 Genomic DNA Translation: AAB59371.1
X02920 mRNA Translation: CAA26677.1
V00496 mRNA Translation: CAA23755.1
M26123 mRNA Translation: AAA51545.1
CCDSiCCDS9925.1 [P01009-1]
PIRiA21853, ITHU
A61391
RefSeqiNP_000286.3, NM_000295.4 [P01009-1]
NP_001002235.1, NM_001002235.2 [P01009-1]
NP_001002236.1, NM_001002236.2 [P01009-1]
NP_001121172.1, NM_001127700.1 [P01009-1]
NP_001121173.1, NM_001127701.1 [P01009-1]
NP_001121174.1, NM_001127702.1 [P01009-1]
NP_001121175.1, NM_001127703.1 [P01009-1]
NP_001121176.1, NM_001127704.1 [P01009-1]
NP_001121177.1, NM_001127705.1 [P01009-1]
NP_001121178.1, NM_001127706.1 [P01009-1]
NP_001121179.1, NM_001127707.1 [P01009-1]
XP_016876859.1, XM_017021370.1 [P01009-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1ATUX-ray2.70A45-418[»]
1D5SX-ray3.00A44-377[»]
B378-418[»]
1EZXX-ray2.60A48-382[»]
B383-418[»]
1HP7X-ray2.10A25-418[»]
1IZ2X-ray2.20A25-418[»]
1KCTX-ray3.46A25-418[»]
1OO8X-ray2.65A26-418[»]
1OPHX-ray2.30A26-418[»]
1PSIX-ray2.92A26-418[»]
1QLPX-ray2.00A26-418[»]
1QMBX-ray2.60A49-376[»]
B377-418[»]
2D26X-ray3.30A25-382[»]
B383-418[»]
2QUGX-ray2.00A25-418[»]
3CWLX-ray2.44A25-418[»]
3CWMX-ray2.51A25-418[»]
3DRMX-ray2.20A26-418[»]
3DRUX-ray3.20A/B/C26-418[»]
3NDDX-ray1.50A46-382[»]
B383-418[»]
3NDFX-ray2.70A46-382[»]
B383-418[»]
3NE4X-ray1.81A48-418[»]
3T1PX-ray3.90A48-418[»]
4PYWX-ray1.91A26-418[»]
5IO1X-ray3.34A/B29-418[»]
5NBUX-ray1.67A43-418[»]
5NBVX-ray1.73A43-418[»]
6HX4X-ray2.95A/B24-418[»]
6I4VX-ray1.78A26-418[»]
6I7UX-ray1.55A26-418[»]
6IAYX-ray1.90A26-418[»]
6RODX-ray1.85A26-418[»]
7APIX-ray3.00A36-382[»]
B383-418[»]
8APIX-ray3.10A36-382[»]
B383-418[»]
9APIX-ray3.00A36-382[»]
B383-418[»]
BMRBiP01009
PCDDBiP01009
SMRiP01009
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi111283, 58 interactors
CORUMiP01009
DIPiDIP-35493N
IntActiP01009, 40 interactors
MINTiP01009
STRINGi9606.ENSP00000416066

Chemistry databases

DrugBankiDB01998, 2-[3,4-Dihydroxy-2-Hydroxymethyl-5-(2-Hydroxy-Nonyl)-Tetrahydro-Furan-2-Yloxy]-6-Hydroxymethyl-Tetra Hydro-Pyran-3,4,5-Triol
DB09130, Copper
DB03345, Mercaptoethanol
DB14007, Pentetic acid
DB05961, PPL-100
DB05481, Recombinant alpha 1-antitrypsin
DB01593, Zinc
DB14487, Zinc acetate
DB14533, Zinc chloride
DB14548, Zinc sulfate, unspecified form

Protein family/group databases

MEROPSiI04.001

PTM databases

CarbonylDBiP01009
GlyConnecti20, 67 N-Linked glycans (4 sites), 2 O-Linked glycans (1 site)
GlyGeniP01009, 7 sites, 30 N-linked glycans (3 sites), 2 O-linked glycans (3 sites)
iPTMnetiP01009
MetOSiteiP01009
PhosphoSitePlusiP01009

Genetic variation databases

BioMutaiSERPINA1
DMDMi1703025

2D gel databases

DOSAC-COBS-2DPAGEiP01009
OGPiP01009
REPRODUCTION-2DPAGEiIPI00553177
P01009
SWISS-2DPAGEiP01009
UCD-2DPAGEiP01009

Proteomic databases

CPTACiCPTAC-651
non-CPTAC-1063
EPDiP01009
jPOSTiP01009
MassIVEiP01009
MaxQBiP01009
PaxDbiP01009
PeptideAtlasiP01009
PRIDEiP01009
ProteomicsDBi51300 [P01009-1]
51301 [P01009-2]
51302 [P01009-3]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		P01009, 2 sequenced antibodies

Antibodypedia a portal for validated antibodies

More...Antibodypediai		767, 1646 antibodies

The CPTC Antibody Portal

More...CPTCi		P01009, 1 antibody

The DNASU plasmid repository

More...DNASUi		5265

Genome annotation databases

EnsembliENST00000355814; ENSP00000348068; ENSG00000197249 [P01009-1]
ENST00000393087; ENSP00000376802; ENSG00000197249 [P01009-1]
ENST00000393088; ENSP00000376803; ENSG00000197249 [P01009-1]
ENST00000402629; ENSP00000386094; ENSG00000197249 [P01009-2]
ENST00000404814; ENSP00000385960; ENSG00000197249 [P01009-1]
ENST00000437397; ENSP00000408474; ENSG00000197249 [P01009-1]
ENST00000440909; ENSP00000390299; ENSG00000197249 [P01009-1]
ENST00000448921; ENSP00000416066; ENSG00000197249 [P01009-1]
ENST00000449399; ENSP00000416354; ENSG00000197249 [P01009-1]
ENST00000489769; ENSP00000451525; ENSG00000197249 [P01009-3]
ENST00000636712; ENSP00000490054; ENSG00000197249 [P01009-1]
GeneIDi5265
KEGGihsa:5265
UCSCiuc001ycx.5, human [P01009-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		5265
DisGeNETi5265

GeneCards: human genes, protein and diseases

More...GeneCardsi		SERPINA1
GeneReviewsiSERPINA1
HGNCiHGNC:8941, SERPINA1
HPAiENSG00000197249, Tissue enriched (liver)
MalaCardsiSERPINA1
MIMi107400, gene
613490, phenotype
neXtProtiNX_P01009
OpenTargetsiENSG00000197249
Orphaneti60, Alpha-1-antitrypsin deficiency
178396, Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
PharmGKBiPA35509
VEuPathDBiHostDB:ENSG00000197249.12

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2392, Eukaryota
GeneTreeiENSGT00940000154493
HOGENOMiCLU_023330_2_1_1
InParanoidiP01009
OMAiPEVKFNK
PhylomeDBiP01009
TreeFamiTF343201

Enzyme and pathway databases

PathwayCommonsiP01009
ReactomeiR-HSA-114608, Platelet degranulation
R-HSA-204005, COPII-mediated vesicle transport
R-HSA-381426, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-5694530, Cargo concentration in the ER
R-HSA-6798695, Neutrophil degranulation
R-HSA-8957275, Post-translational protein phosphorylation
SIGNORiP01009

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		5265, 3 hits in 884 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SERPINA1, human
EvolutionaryTraceiP01009

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Alpha_1-antitrypsin

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		5265
PharosiP01009, Tbio

Protein Ontology

More...PROi		PR:P01009
RNActiP01009, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000197249, Expressed in liver and 219 other tissues
ExpressionAtlasiP01009, baseline and differential
GenevisibleiP01009, HS

Family and domain databases

Gene3Di2.30.39.10, 1 hit
3.30.497.10, 1 hit
InterProiView protein in InterPro
IPR023795, Serpin_CS
IPR023796, Serpin_dom
IPR000215, Serpin_fam
IPR036186, Serpin_sf
IPR042178, Serpin_sf_1
IPR042185, Serpin_sf_2
PANTHERiPTHR11461, PTHR11461, 1 hit
PfamiView protein in Pfam
PF00079, Serpin, 1 hit
SMARTiView protein in SMART
SM00093, SERPIN, 1 hit
SUPFAMiSSF56574, SSF56574, 1 hit
PROSITEiView protein in PROSITE
PS00284, SERPIN, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiA1AT_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P01009
Secondary accession number(s): A6PX14
, B2RDQ8, Q0PVP5, Q13672, Q53XB8, Q5U0M1, Q7M4R2, Q86U18, Q86U19, Q96BF9, Q96ES1, Q9P1P0, Q9UCE6, Q9UCM3
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: October 1, 1996
Last modified: February 10, 2021
This is version 268 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
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