U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 5054, updated on 17-Apr-2024

Summary

Go to the top of the page Help
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
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
7q22.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (101127104..101139247)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (102449908..102462056)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Cancer-associated fibroblast-derived PAI-1 promotes lymphatic metastasis via the induction of EndoMT in lymphatic endothelial cells. Wei WF, et al. J Exp Clin Cancer Res, 2023 Jul 6. PMID 37415190, Free PMC Article
  2. PAI-1 Overexpression in Valvular Interstitial Cells Contributes to Hypofibrinolysis in Aortic Stenosis. Kopytek M, et al. Cells, 2023 May 16. PMID 37408236, Free PMC Article
  3. Association between PAI-1 Polymorphisms and Ischemic Stroke in a South Korean Case-Control Cohort. Choi GH, et al. Int J Mol Sci, 2023 Apr 28. PMID 37175749, Free PMC Article
  4. The Role of Plasminogen Activator Inhibitor 1 in Predicting Sepsis-Associated Liver Dysfunction: An Observational Study. Woźnica-Niesobska E, et al. Int J Environ Res Public Health, 2023 Mar 9. PMID 36981754, Free PMC Article
  5. Influence of the 4G/5G polymorphism of plasminogen activator inhibitor-1 gene in acute unprovoked deep vein thrombosis and residual vein thrombosis. Li W, et al. J Vasc Surg Venous Lymphat Disord, 2023 Jul. PMID 36907506

See all (1505) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A challenging issue in COVID-19 infection: The relationship between PA1-1 and TAFI levels in patients with coagulation disorder: A retrospective and observational study.
    Title: A challenging issue in COVID-19 infection: The relationship between PA1-1 and TAFI levels in patients with coagulation disorder: A retrospective and observational study.
  2. Circulating miR-10b, soluble urokinase-type plasminogen activator receptor, and plasminogen activator inhibitor-1 as predictors of non-small cell lung cancer progression and treatment response.
    Title: Circulating miR-10b, soluble urokinase-type plasminogen activator receptor, and plasminogen activator inhibitor-1 as predictors of non-small cell lung cancer progression and treatment response.
  3. Endothelial H2S-AMPK dysfunction upregulates the angiocrine factor PAI-1 and contributes to lung fibrosis.
    Title: Endothelial H(2)S-AMPK dysfunction upregulates the angiocrine factor PAI-1 and contributes to lung fibrosis.
  4. Extracellular vesicles from periodontal pathogens regulate hepatic steatosis via Toll-like receptor 2 and plasminogen activator inhibitor-1.
    Title: Extracellular vesicles from periodontal pathogens regulate hepatic steatosis via Toll-like receptor 2 and plasminogen activator inhibitor-1.
  5. Possible effects of plasminogen activator inhibitor-1 on promoting angiogenesis through matrix metalloproteinase 9 in advanced mycosis fungoides.
    Title: Possible effects of plasminogen activator inhibitor-1 on promoting angiogenesis through matrix metalloproteinase 9 in advanced mycosis fungoides.
  6. Higher testosterone and testosterone/estradiol ratio in men are associated with decreased Pheno-/GrimAge and DNA-methylation based PAI1.
    Title: Higher testosterone and testosterone/estradiol ratio in men are associated with decreased Pheno-/GrimAge and DNA-methylation based PAI1.
  7. Clinical value of echocardiography combined with serum Cav-1, NFATc1, and PAI-1 in the diagnosis of Kawasaki disease complicated with coronary artery lesions.
    Title: Clinical value of echocardiography combined with serum Cav-1, NFATc1, and PAI-1 in the diagnosis of Kawasaki disease complicated with coronary artery lesions.
  8. Spontaneous miscarriage driven by maternal genetic mutation at position of PAI-1-844G/A: shed light on a race-specific genetic polymorphism.
    Title: Spontaneous miscarriage driven by maternal genetic mutation at position of PAI-1-844G/A: shed light on a race-specific genetic polymorphism.
  9. miR-181a plays the tumor-suppressor role in chronic myeloid leukemia CD34[ +] cells partially via SERPINE1.
    Title: miR-181a plays the tumor-suppressor role in chronic myeloid leukemia CD34( +) cells partially via SERPINE1.
  10. Serpin E1 mediates the induction of renal tubular degeneration and premature senescence upon diabetic insult.
    Title: Serpin E1 mediates the induction of renal tubular degeneration and premature senescence upon diabetic insult.
Submit: New GeneRIF Correction See all GeneRIFs (1144)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

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

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

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 
Component Evidence Code Pubs
colocalizes_with collagen-containing extracellular matrix HDA PubMed 
located_in collagen-containing extracellular matrix HDA PubMed 
located_in collagen-containing extracellular matrix IDA
Inferred from Direct Assay
more info
 PubMed 
located_in collagen-containing extracellular matrix NAS
Non-traceable Author Statement
more info
 PubMed 
located_in extracellular exosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular region IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
part_of peptidase inhibitor complex IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in platelet alpha granule lumen TAS
Traceable Author Statement
more info
  
part_of serine protease inhibitor complex IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

Go to the top of the page Help
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)

Go to the top of the page Help

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_2023_10

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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P05121.1 GenPept UniProtKB/Swiss-Prot:P05121

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Other Literature Sources
Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous