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

Gene ID: 5054, updated on 20-Jun-2021

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
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
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Genomic context

See SERPINE1 in Genome Data Viewer
Location:
7q22.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (101127104..101139247)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100770385..100782528)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene NFE2L2 motif-containing MPRA enhancers 54 and 153 Neighboring gene Sharpr-MPRA regulatory region 9046 Neighboring gene negCOR silencer S6 Neighboring gene Sharpr-MPRA regulatory region 5920 Neighboring gene adaptor related protein complex 1 subunit sigma 1

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
Congenital plasminogen activator inhibitor type 1 deficiency Compare labs
Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation.
GeneReviews: Not available
Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2.
GeneReviews: Not available

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

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
PubMed 
enables serine-type endopeptidase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
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 circadian rhythm TAS
Traceable Author Statement
more info
 
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 extracellular matrix organization TAS
Traceable Author Statement
more info
 
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
PubMed 
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 plasminogen activation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 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
PubMed 
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 platelet degranulation TAS
Traceable Author Statement
more info
 
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 positive regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
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)

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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_000602.5NP_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
    P05121
    UniProtKB/TrEMBL
    A0A024QYT5
    Related
    ENSP00000223095.4, ENST00000223095.5
    Conserved Domains (1) summary
    cl00137
    Location:25402
    SERPIN; SERine Proteinase INhibitors (serpins) exhibit conformational polymorphism shifting from native to cleaved, latent, delta, or polymorphic forms. Many serpins, such as antitrypsin and antichymotrypsin, function as serine protease inhibitors which regulate ...
  2. NM_001386456.1NP_001373385.1  plasminogen activator inhibitor 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC004876
    Conserved Domains (1) summary
    cl38926
    Location:1318
    serpin; SERine Proteinase INhibitors (serpin) family
  3. NM_001386457.1NP_001373386.1  plasminogen activator inhibitor 1 isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AC004876
    Conserved Domains (1) summary
    cl38926
    Location:29338
    serpin; SERine Proteinase INhibitors (serpin) family
  4. NM_001386458.1NP_001373387.1  plasminogen activator inhibitor 1 isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AC004876
    Conserved Domains (1) summary
    cd02051
    Location:29409
    serpinE1_PAI-1; serpin family E member 1, plasminogen activator inhibitor-1
  5. NM_001386459.1NP_001373388.1  plasminogen activator inhibitor 1 isoform 6 precursor

    Status: REVIEWED

    Source sequence(s)
    AC004876
    Conserved Domains (1) summary
    cd02051
    Location:29398
    serpinE1_PAI-1; serpin family E member 1, plasminogen activator inhibitor-1
  6. NM_001386460.1NP_001373389.1  plasminogen activator inhibitor 1 isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC004876
    Conserved Domains (1) summary
    cd02051
    Location:29393
    serpinE1_PAI-1; serpin family E member 1, plasminogen activator inhibitor-1
  7. NM_001386461.1NP_001373390.1  plasminogen activator inhibitor 1 isoform 7 precursor

    Status: REVIEWED

    Source sequence(s)
    AC004876
    Conserved Domains (1) summary
    cl38926
    Location:29366
    serpin; SERine Proteinase INhibitors (serpin) family
  8. NM_001386462.1NP_001373391.1  plasminogen activator inhibitor 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC004876
    Conserved Domains (1) summary
    cl38926
    Location:1335
    serpin; SERine Proteinase INhibitors (serpin) family
  9. NM_001386463.1NP_001373392.1  plasminogen activator inhibitor 1 isoform 9 precursor

    Status: REVIEWED

    Source sequence(s)
    AC004876
    Conserved Domains (1) summary
    cd02051
    Location:27400
    serpinE1_PAI-1; serpin family E member 1, plasminogen activator inhibitor-1
  10. NM_001386464.1NP_001373393.1  plasminogen activator inhibitor 1 isoform 10 precursor

    Status: REVIEWED

    Source sequence(s)
    AC004876
    Conserved Domains (1) summary
    cd02051
    Location:29390
    serpinE1_PAI-1; serpin family E member 1, plasminogen activator inhibitor-1
  11. NM_001386465.1NP_001373394.1  plasminogen activator inhibitor 1 isoform 11 precursor

    Status: REVIEWED

    Source sequence(s)
    AC004876
    Conserved Domains (1) summary
    cd02051
    Location:29407
    serpinE1_PAI-1; serpin family E member 1, plasminogen activator inhibitor-1
  12. NM_001386466.1NP_001373395.1  plasminogen activator inhibitor 1 isoform 12 precursor

    Status: REVIEWED

    Source sequence(s)
    AC004876
    Conserved Domains (1) summary
    cd02051
    Location:29410
    serpinE1_PAI-1; serpin family E member 1, plasminogen activator inhibitor-1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    101127104..101139247
    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.
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