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    SERPINE1 serpin family E member 1 [ Homo sapiens (human) ]

    Gene ID: 5054, updated on 9-Dec-2024

    Summary

    Official Symbol
    SERPINE1provided by HGNC
    Official Full Name
    serpin family E member 1provided by HGNC
    Primary source
    HGNC:HGNC:8583
    See related
    Ensembl:ENSG00000106366 MIM:173360; AllianceGenome:HGNC:8583
    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. The protein also functions as a component of innate antiviral immunity. 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. [provided by RefSeq, Aug 2020]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
    Expression
    Biased expression in gall bladder (RPKM 208.8), placenta (RPKM 164.7) and 7 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SERPINE1 in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (101127104..101139247)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (102449908..102462056)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100770385..100782528)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene mucin 17, cell surface associated Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100709117-100709986 Neighboring gene RN7SK pseudogene 54 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:100727119-100727619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26398 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100730454-100731094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100731095-100731734 Neighboring gene tripartite motif containing 56 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100742673-100743380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100743381-100744088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100751090-100752040 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100752041-100752991 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100755193-100755694 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100760705-100761406 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100765023-100765642 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:100766263-100766880 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100769261-100770040 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100770821-100771600 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100771601-100772380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100778603-100779104 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100781393-100782168 Neighboring gene negCOR silencer S6 Neighboring gene Sharpr-MPRA regulatory region 5920 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:100798163-100798663 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:100799642-100800841 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18475 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18476 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18478 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:100812095-100812265 Neighboring gene adaptor related protein complex 1 subunit sigma 1 Neighboring gene microRNA 4653 Neighboring gene VGF nerve growth factor inducible

    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

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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
     
    enables serine-type endopeptidase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables serine-type endopeptidase inhibitor activity TAS
    Traceable Author Statement
    more info
     
    enables signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in angiogenesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to lipopolysaccharide IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in defense response to Gram-negative bacterium IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in dentinogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in fibrinolysis TAS
    Traceable Author Statement
    more info
     
    involved_in negative regulation of blood coagulation IC
    Inferred by Curator
    more info
    PubMed 
    involved_in negative regulation of cell adhesion mediated by integrin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of endothelial cell apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of extrinsic apoptotic signaling pathway via death domain receptors IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of fibrinolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of fibrinolysis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of plasminogen activation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of plasminogen activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of plasminogen activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of plasminogen activation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of smooth muscle cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of smooth muscle cell-matrix adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of vascular wound healing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of vascular wound healing IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of wound healing IC
    Inferred by Curator
    more info
    PubMed 
    involved_in positive regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of blood coagulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of inflammatory response IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of interleukin-8 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of leukotriene production involved in inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of monocyte chemotaxis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of odontoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of receptor-mediated endocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of signaling receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in replicative senescence IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    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
    serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), 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_013213.1 RefSeqGene

      Range
      4992..17169
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_597

    mRNA and Protein(s)

    1. NM_000602.5 → NP_000593.1  plasminogen activator inhibitor 1 isoform 2 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/Swiss-Prot
      B7Z4S0, F8WD53, P05121
      UniProtKB/TrEMBL
      B7Z4X6
      Related
      ENSP00000223095.4, ENST00000223095.5
      Conserved Domains (1) summary
      cd02051
      Location:29 → 402
      serpinE1_PAI-1; serpin family E member 1, plasminogen activator inhibitor-1
    2. NM_001386456.1 → NP_001373385.1  plasminogen activator inhibitor 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC004876
      UniProtKB/TrEMBL
      B7Z4X6
      Conserved Domains (1) summary
      cl38926
      Location:1 → 318
      serpin; SERine Proteinase INhibitors (serpin) family
    3. NM_001386457.1 → NP_001373386.1  plasminogen activator inhibitor 1 isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AC004876
      Conserved Domains (1) summary
      cl38926
      Location:29 → 338
      serpin; SERine Proteinase INhibitors (serpin) family
    4. NM_001386458.1 → NP_001373387.1  plasminogen activator inhibitor 1 isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AC004876
      UniProtKB/TrEMBL
      B7Z4X6
      Conserved Domains (1) summary
      cd02051
      Location:29 → 409
      serpinE1_PAI-1; serpin family E member 1, plasminogen activator inhibitor-1
    5. NM_001386459.1 → NP_001373388.1  plasminogen activator inhibitor 1 isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AC004876
      Conserved Domains (1) summary
      cd02051
      Location:29 → 398
      serpinE1_PAI-1; serpin family E member 1, plasminogen activator inhibitor-1
    6. NM_001386460.1 → NP_001373389.1  plasminogen activator inhibitor 1 isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC004876
      Conserved Domains (1) summary
      cd02051
      Location:29 → 393
      serpinE1_PAI-1; serpin family E member 1, plasminogen activator inhibitor-1
    7. NM_001386461.1 → NP_001373390.1  plasminogen activator inhibitor 1 isoform 7 precursor

      Status: REVIEWED

      Source sequence(s)
      AC004876
      Conserved Domains (1) summary
      cl38926
      Location:29 → 366
      serpin; SERine Proteinase INhibitors (serpin) family
    8. NM_001386462.1 → NP_001373391.1  plasminogen activator inhibitor 1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC004876
      UniProtKB/TrEMBL
      B7Z4X6, B7ZAB0
      Conserved Domains (1) summary
      cl38926
      Location:1 → 335
      serpin; SERine Proteinase INhibitors (serpin) family
    9. NM_001386463.1 → NP_001373392.1  plasminogen activator inhibitor 1 isoform 9 precursor

      Status: REVIEWED

      Source sequence(s)
      AC004876
      UniProtKB/TrEMBL
      B7Z4X6
      Conserved Domains (1) summary
      cd02051
      Location:27 → 400
      serpinE1_PAI-1; serpin family E member 1, plasminogen activator inhibitor-1
    10. NM_001386464.1 → NP_001373393.1  plasminogen activator inhibitor 1 isoform 10 precursor

      Status: REVIEWED

      Source sequence(s)
      AC004876
      Conserved Domains (1) summary
      cd02051
      Location:29 → 390
      serpinE1_PAI-1; serpin family E member 1, plasminogen activator inhibitor-1
    11. NM_001386465.1 → NP_001373394.1  plasminogen activator inhibitor 1 isoform 11 precursor

      Status: REVIEWED

      Source sequence(s)
      AC004876
      UniProtKB/TrEMBL
      B7Z4X6
      Conserved Domains (1) summary
      cd02051
      Location:29 → 407
      serpinE1_PAI-1; serpin family E member 1, plasminogen activator inhibitor-1
    12. NM_001386466.1 → NP_001373395.1  plasminogen activator inhibitor 1 isoform 12 precursor

      Status: REVIEWED

      Source sequence(s)
      AC004876
      UniProtKB/TrEMBL
      B7Z4X6
      Conserved Domains (1) summary
      cd02051
      Location:29 → 410
      serpinE1_PAI-1; serpin family E member 1, plasminogen activator inhibitor-1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      101127104..101139247
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      102449908..102462056
      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.