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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 26-Jul-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

Homology

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
    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 ...

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.