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    SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 [ Homo sapiens (human) ]

    Gene ID: 5054, updated on 30-Jun-2015
    Official Symbol
    SERPINE1provided by HGNC
    Official Full Name
    serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1provided by HGNC
    Primary source
    HGNC:HGNC:8583
    See related
    Ensembl:ENSG00000106366; HPRD:01418; MIM:173360; Vega:OTTHUMG00000157107
    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
    PAI; PAI1; PAI-1; PLANH1
    Summary
    This gene encodes a member of the serine proteinase inhibitor (serpin) superfamily. This member is the principal inhibitor of tissue plasminogen activator (tPA) and urokinase (uPA), and hence is an inhibitor of fibrinolysis. Defects in this gene are the cause of plasminogen activator inhibitor-1 deficiency (PAI-1 deficiency), and high concentrations of the gene product are associated with thrombophilia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
    Orthologs
    See SERPINE1 in Epigenomics, MapViewer
    Location:
    7q22.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (101127089..101139266)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100770370..100782547)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene mucin 17, cell surface associated Neighboring gene tripartite motif containing 56 Neighboring gene adaptor-related protein complex 1, sigma 1 subunit Neighboring gene microRNA 4653 Neighboring gene VGF nerve growth factor inducible

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Plasminogen activator inhibitor type 1 deficiency
    MedGen: C2750067 OMIM: 613329 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation.
    NHGRI GWA Catalog
    Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Cellular biotinylated serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1) protein is incorporated into HIV-1 Gag virus-like particles PubMed
    Tat tat HIV-1 Tat has been shown to activate central nervous system-derived endothelial cells by the upregulation of E-selectin, IL-6 and PAI-1 PubMed
    tat HIV-1 Tat affects the fibrinolytic activity of tumor cell lines derived from BKV/tat-transgenic mice by upregulating/modulating the production of both urokinase-type plasminogen activator (uPA) and plasminogen activator inhibitor 1 (PAI-1) PubMed
    Vpr vpr Treatment of human primary astrocytes with HIV-1 Vpr upregulates secretion of IL-6, IL-8, MCP-1, and MIF and downregulates secretion of serpin E1, a serine proteinase inhibitor (known as PAI-1) PubMed

    Go to the HIV-1, Human Interaction Database

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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    serine-type endopeptidase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    angiogenesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    cellular response to lipopolysaccharide IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chronological cell aging IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    circadian rhythm TAS
    Traceable Author Statement
    more info
     
    defense response to Gram-negative bacterium IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    extracellular matrix organization TAS
    Traceable Author Statement
    more info
     
    fibrinolysis TAS
    Traceable Author Statement
    more info
     
    gene expression TAS
    Traceable Author Statement
    more info
     
    negative regulation of blood coagulation IC
    Inferred by Curator
    more info
    PubMed 
    negative regulation of cell adhesion mediated by integrin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of endothelial cell apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of extrinsic apoptotic signaling pathway via death domain receptors IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of fibrinolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of plasminogen activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of plasminogen activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of smooth muscle cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of smooth muscle cell-matrix adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of vascular wound healing IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of wound healing IC
    Inferred by Curator
    more info
    PubMed 
    platelet activation TAS
    Traceable Author Statement
    more info
     
    platelet degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of blood coagulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of inflammatory response IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of interleukin-8 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of leukotriene production involved in inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of monocyte chemotaxis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of receptor-mediated endocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
     
    regulation of receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription initiation from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
     
    transcription, DNA-templated TAS
    Traceable Author Statement
    more info
     
    transforming growth factor beta receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    plasminogen activator inhibitor 1
    Names
    endothelial plasminogen activator inhibitor
    serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
    serpin E1

    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_013213.1 RefSeqGene

      Range
      4992..17169
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000602.4NP_000593.1  plasminogen activator inhibitor 1 precursor

      See identical proteins and their annotated locations for NP_000593.1

      Status: REVIEWED

      Source sequence(s)
      AI752990, BC010860, CN309001, M16006
      Consensus CDS
      CCDS5711.1
      UniProtKB/TrEMBL
      A0A024QYT5
      UniProtKB/Swiss-Prot
      P05121
      Related
      ENSP00000223095, OTTHUMP00000211478, ENST00000223095, OTTHUMT00000347458
      Conserved Domains (1) summary
      cd02051
      Location:25402
      PAI-1_nexin-1; Plasminogen activator inhibitor-1_like. Plasminogen activator inhibitor-1 (PAI-1) is the primary, fast-acting inhibitor of plasminogen activators. It is often bound to vitronectin, an abundant component of the extracellular matrix in many tissues. ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

      Range
      101127089..101139266
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      100700705..100712867
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001165413.2: Suppressed sequence

      Description
      NM_001165413.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.