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    SERPINA1 serpin family A member 1 [ Homo sapiens (human) ]

    Gene ID: 5265, updated on 22-Apr-2016
    Official Symbol
    SERPINA1provided by HGNC
    Official Full Name
    serpin family A member 1provided by HGNC
    Primary source
    HGNC:HGNC:8941
    See related
    Ensembl:ENSG00000197249 HPRD:02463; MIM:107400; Vega:OTTHUMG00000150355
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PI; A1A; AAT; PI1; A1AT; PRO2275; alpha1AT
    Summary
    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. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    14q32.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 14 NC_000014.9 (94376747..94390692, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (94843084..94857029, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene serpin family A member 6 Neighboring gene serpin family A member 2 (gene/pseudogene) Neighboring gene serpin family A member 11 Neighboring gene uncharacterized LOC105370635

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Alpha-1-antitrypsin deficiency
    MedGen: C0221757 OMIM: 613490 GeneReviews: Alpha-1 Antitrypsin Deficiency
    Compare labs
    Chronic obstructive pulmonary disease
    MedGen: C0024117 OMIM: 606963 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genetically distinct subsets within ANCA-associated vasculitis.
    NHGRI GWA Catalog
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Serpin A1 competes with gp120-proteinase binding (in particular elastase-HIV-1 binding) and decreases the chances of HIV-1 fusion with the membrane followed by internalization PubMed
    Envelope surface glycoprotein gp160, precursor env Alpha1-Antitrypsin (alpha(1)AT) is cleaved by serine proteases, causing a conformational change in alpha(1)AT that sequesters HIV-1 protease, blocks both gp160 and p55 processing, and is a powerful inhibitor of HIV replication PubMed
    Pr55(Gag) gag Alpha1-Antitrypsin (alpha(1)AT) is cleaved by serine proteases, causing a conformational change in alpha(1)AT that sequesters HIV-1 protease, blocks both gp160 and Gag55 processing, and is a powerful inhibitor of HIV replication PubMed

    Go to the HIV-1, Human Interaction Database

    • Asparagine N-linked glycosylation, organism-specific biosystem (from REACTOME)
      Asparagine N-linked glycosylation, organism-specific biosystemN-linked glycosylation is the most important form of post-translational modification for proteins synthesized and folded in the Endoplasmic Reticulum (Stanley et al. 2009). An early study in 1999 rev...
    • COPII (Coat Protein 2) Mediated Vesicle Transport, organism-specific biosystem (from REACTOME)
      COPII (Coat Protein 2) Mediated Vesicle Transport, organism-specific biosystemCOPII components (known as Sec13p, Sec23p, Sec24p, Sec31p, and Sar1p in yeast) traffic cargo from the endoplasmic reticulum to the ER-Golgi intermediate compartment (ERGIC). COPII-coated vesicles wer...
    • Cargo concentration in the ER, organism-specific biosystem (from REACTOME)
      Cargo concentration in the ER, organism-specific biosystemComputational analysis suggests that ~25% of the proteome may be exported from the ER in human cells (Kanapin et al, 2003). These cargo need to be recognized and concentrated into COPII vesicles, wh...
    • Complement and Coagulation Cascades, organism-specific biosystem (from WikiPathways)
      Complement and Coagulation Cascades, organism-specific biosystemBlood coagulation is a series of coordinated and calcium-dependent proenzyme-to-serine protease conversions likely to be localized on the surfaces of activated cells in vivo. It culminates in the for...
    • Complement and coagulation cascades, organism-specific biosystem (from KEGG)
      Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
    • Complement and coagulation cascades, conserved biosystem (from KEGG)
      Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
    • ER to Golgi Anterograde Transport, organism-specific biosystem (from REACTOME)
      ER to Golgi Anterograde Transport, organism-specific biosystemSecretory cargo destined to be secreted or to arrive at the plasma membrane (PM) leaves the ER via distinct exit sites. This cargo is destined for the Golgi apparatus for further processing.
    • FOXA1 transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      FOXA1 transcription factor network, organism-specific biosystem
      FOXA1 transcription factor network
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
      Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
    • Platelet degranulation, organism-specific biosystem (from REACTOME)
      Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
      Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
    • Transport to the Golgi and subsequent modification, organism-specific biosystem (from REACTOME)
      Transport to the Golgi and subsequent modification, organism-specific biosystemAt least two mechanisms of transport of proteins from the ER to the Golgi have been described. One is a general flow requiring no export signals (Wieland et al, 1987; Martinez-Menarguez et al, 1999)....
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC9222, MGC23330

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    glycoprotein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    serine-type endopeptidase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    serine-type endopeptidase inhibitor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    COPII vesicle coating TAS
    Traceable Author Statement
    more info
     
    ER to Golgi vesicle-mediated transport TAS
    Traceable Author Statement
    more info
     
    acute-phase response IEA
    Inferred from Electronic Annotation
    more info
     
    blood coagulation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of endopeptidase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    platelet degranulation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    ER to Golgi transport vesicle TAS
    Traceable Author Statement
    more info
     
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Golgi membrane TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum-Golgi intermediate compartment membrane TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
     
    proteinaceous extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    alpha-1-antitrypsin
    Names
    alpha-1 antitrypsin
    alpha-1 protease inhibitor
    alpha-1-antiproteinase
    alpha-1-antitrypsin null
    protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin
    serine (or cysteine) proteinase inhibitor, clade A, member 1
    serpin A1
    serpin peptidase inhibitor clade A member 1
    serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008290.1 RefSeqGene

      Range
      5001..18946
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000295.4NP_000286.3  alpha-1-antitrypsin precursor

      See identical proteins and their annotated locations for NP_000286.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the same protein as the other ten variants of this gene.
      Source sequence(s)
      AK026174, AL132708, DA966896
      Consensus CDS
      CCDS9925.1
      UniProtKB/Swiss-Prot
      P01009
      UniProtKB/TrEMBL
      E9KL23
      Related
      ENSP00000376802, OTTHUMP00000197153, ENST00000393087, OTTHUMT00000317770
      Conserved Domains (1) summary
      cd02056
      Location:55412
      alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...
    2. NM_001002235.2NP_001002235.1  alpha-1-antitrypsin precursor

      See identical proteins and their annotated locations for NP_001002235.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
      Source sequence(s)
      AL132708, BX161449, DA428299
      Consensus CDS
      CCDS9925.1
      UniProtKB/Swiss-Prot
      P01009
      UniProtKB/TrEMBL
      E9KL23
      Related
      ENSP00000390299, OTTHUMP00000197150, ENST00000440909, OTTHUMT00000317767
      Conserved Domains (1) summary
      cd02056
      Location:55412
      alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...
    3. NM_001002236.2NP_001002236.1  alpha-1-antitrypsin precursor

      See identical proteins and their annotated locations for NP_001002236.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
      Source sequence(s)
      AL132708, BX247968, DA428299
      Consensus CDS
      CCDS9925.1
      UniProtKB/Swiss-Prot
      P01009
      UniProtKB/TrEMBL
      E9KL23
      Related
      ENSP00000376803, OTTHUMP00000197151, ENST00000393088, OTTHUMT00000317768
      Conserved Domains (1) summary
      cd02056
      Location:55412
      alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...
    4. NM_001127700.1NP_001121172.1  alpha-1-antitrypsin precursor

      See identical proteins and their annotated locations for NP_001121172.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
      Source sequence(s)
      AL132708, BX247968, DA427262, DA428299
      Consensus CDS
      CCDS9925.1
      UniProtKB/Swiss-Prot
      P01009
      UniProtKB/TrEMBL
      E9KL23
      Related
      ENSP00000348068, ENST00000355814
      Conserved Domains (1) summary
      cd02056
      Location:55412
      alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...
    5. NM_001127701.1NP_001121173.1  alpha-1-antitrypsin precursor

      See identical proteins and their annotated locations for NP_001121173.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
      Source sequence(s)
      AL132708, BX247968, DA428299, DA672472
      Consensus CDS
      CCDS9925.1
      UniProtKB/Swiss-Prot
      P01009
      UniProtKB/TrEMBL
      E9KL23
      Related
      ENSP00000416066, ENST00000448921
      Conserved Domains (1) summary
      cd02056
      Location:55412
      alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...
    6. NM_001127702.1NP_001121174.1  alpha-1-antitrypsin precursor

      See identical proteins and their annotated locations for NP_001121174.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
      Source sequence(s)
      AL132708, BP301274, BX247968, DA428299
      Consensus CDS
      CCDS9925.1
      UniProtKB/Swiss-Prot
      P01009
      UniProtKB/TrEMBL
      E9KL23
      Related
      ENSP00000408474, ENST00000437397
      Conserved Domains (1) summary
      cd02056
      Location:55412
      alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...
    7. NM_001127703.1NP_001121175.1  alpha-1-antitrypsin precursor

      See identical proteins and their annotated locations for NP_001121175.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
      Source sequence(s)
      AL132708, BX247968, CD685665, DA428299, DA433050
      Consensus CDS
      CCDS9925.1
      UniProtKB/Swiss-Prot
      P01009
      UniProtKB/TrEMBL
      E9KL23
      Conserved Domains (1) summary
      cd02056
      Location:55412
      alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...
    8. NM_001127704.1NP_001121176.1  alpha-1-antitrypsin precursor

      See identical proteins and their annotated locations for NP_001121176.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
      Source sequence(s)
      AL132708, BX247968, DA428299, DA433058
      Consensus CDS
      CCDS9925.1
      UniProtKB/Swiss-Prot
      P01009
      UniProtKB/TrEMBL
      E9KL23
      Conserved Domains (1) summary
      cd02056
      Location:55412
      alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...
    9. NM_001127705.1NP_001121177.1  alpha-1-antitrypsin precursor

      See identical proteins and their annotated locations for NP_001121177.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
      Source sequence(s)
      AL132708, BX247968, DA428299, DA675981
      Consensus CDS
      CCDS9925.1
      UniProtKB/Swiss-Prot
      P01009
      UniProtKB/TrEMBL
      E9KL23
      Conserved Domains (1) summary
      cd02056
      Location:55412
      alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...
    10. NM_001127706.1NP_001121178.1  alpha-1-antitrypsin precursor

      See identical proteins and their annotated locations for NP_001121178.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
      Source sequence(s)
      AL132708, BP300943, BX247968, DA428299
      Consensus CDS
      CCDS9925.1
      UniProtKB/Swiss-Prot
      P01009
      UniProtKB/TrEMBL
      E9KL23
      Related
      ENSP00000416354, OTTHUMP00000245864, ENST00000449399, OTTHUMT00000413069
      Conserved Domains (1) summary
      cd02056
      Location:55412
      alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...
    11. NM_001127707.1NP_001121179.1  alpha-1-antitrypsin precursor

      See identical proteins and their annotated locations for NP_001121179.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
      Source sequence(s)
      AL132708, BP296710, BX247968, DA428299
      Consensus CDS
      CCDS9925.1
      UniProtKB/Swiss-Prot
      P01009
      UniProtKB/TrEMBL
      E9KL23
      Related
      ENSP00000385960, OTTHUMP00000197152, ENST00000404814, OTTHUMT00000317769
      Conserved Domains (1) summary
      cd02056
      Location:55412
      alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p2 Primary Assembly

      Range
      94376747..94390692 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_1

    Genomic

    1. NT_187601.1 Reference GRCh38.p2 ALT_REF_LOCI_1

      Range
      1493319..1507264 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      94780885..94794830 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)