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

    Gene ID: 5265, updated on 23-Jan-2022

    Summary

    Official Symbol
    SERPINA1provided by HGNC
    Official Full Name
    serpin family A member 1provided by HGNC
    Primary source
    HGNC:HGNC:8941
    See related
    Ensembl:ENSG00000197249 MIM:107400
    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; nNIF; PRO2275; alpha1AT
    Summary
    The protein encoded by this gene is a serine protease inhibitor belonging to the serpin superfamily whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. This protein is produced in the liver, the bone marrow, by lymphocytic and monocytic cells in lymphoid tissue, and by the Paneth cells of the gut. Defects in this gene are associated with chronic obstructive pulmonary disease, emphysema, and chronic liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2020]
    Expression
    Biased expression in liver (RPKM 3603.5) and small intestine (RPKM 158.3) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See SERPINA1 in Genome Data Viewer
    Location:
    14q32.13
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (94376747..94390654, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (94843084..94856972, 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

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Alpha-1-antitrypsin deficiency
    MedGen: C0221757 OMIM: 613490 GeneReviews: Alpha-1 Antitrypsin Deficiency
    Compare labs

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC9222, MGC23330

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables serine-type endopeptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables serine-type endopeptidase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables serine-type endopeptidase inhibitor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in acute-phase response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in blood coagulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    alpha-1-antitrypsin
    Names
    alpha-1 antitrypsin
    alpha-1 protease inhibitor
    alpha-1 proteinase inhibitor
    alpha-1-antiproteinase
    alpha-1-antitrypsin short transcript variant 1C4
    alpha-1-antitrypsin short transcript variant 1C5
    anti-elastase
    epididymis secretory sperm binding protein
    protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin
    serine (or cysteine) proteinase inhibitor, clade A, member 1
    serpin A1
    serpin peptidase inhibitor clade A (alpha-1antiproteinase, antitrypsin) member 1
    serpin peptidase inhibitor clade A member 1
    serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      7091..18946
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_575

    mRNA and Protein(s)

    1. NM_000295.5NP_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
      ENSP00000376802.4, ENST00000393087.9
      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_001002235.3NP_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
      ENSP00000390299.1, ENST00000440909.5
      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_001002236.3NP_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
      ENSP00000376803.4, ENST00000393088.8
      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_001127700.2NP_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
      Consensus CDS
      CCDS9925.1
      UniProtKB/Swiss-Prot
      P01009
      UniProtKB/TrEMBL
      E9KL23
      Related
      ENSP00000348068.4, ENST00000355814.8
      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_001127701.2NP_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
      ENSP00000416066.1, ENST00000448921.5
      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_001127702.2NP_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
      ENSP00000408474.1, ENST00000437397.5
      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_001127703.2NP_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_001127704.2NP_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_001127705.2NP_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_001127706.2NP_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
      Consensus CDS
      CCDS9925.1
      UniProtKB/Swiss-Prot
      P01009
      UniProtKB/TrEMBL
      E9KL23
      Related
      ENSP00000416354.3, ENST00000449399.7
      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_001127707.2NP_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
      ENSP00000385960.4, ENST00000404814.8
      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 Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

      Range
      94376747..94390654 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017021370.1XP_016876859.1  alpha-1-antitrypsin isoform X1

      UniProtKB/Swiss-Prot
      P01009
      UniProtKB/TrEMBL
      E9KL23
      Related
      ENSP00000490054.1, ENST00000636712.1
      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, ...

    Reference GRCh38.p13 ALT_REF_LOCI_1

    Genomic

    1. NT_187601.1 Reference GRCh38.p13 ALT_REF_LOCI_1

      Range
      1493319..1507207 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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