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

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: mouse all
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Genomic context

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
Exosomal circCNOT6L Regulates Astrocyte Apoptotic Signals Induced by Hypoxia Exposure Through miR99a-5p/SERPINE1 and Alleviates Ischemic Stroke Injury.
Title: Exosomal circCNOT6L Regulates Astrocyte Apoptotic Signals Induced by Hypoxia Exposure Through miR99a-5p/SERPINE1 and Alleviates Ischemic Stroke Injury.

Submit: New GeneRIF Correction See all GeneRIFs (1143)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital plasminogen activator inhibitor type 1 deficiency MedGen: C2750067 OMIM: 613329 GeneReviews: Complete Plasminogen Activator Inhibitor 1 Deficiency	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PAI1 (e-PCR)
- UniSTS:41507

D7S477 (e-PCR)
- UniSTS:11371

RH48262 (e-PCR)
- UniSTS:12396

GDB:3755009 (e-PCR)
- UniSTS:33134

D7S477 (e-PCR)
- UniSTS:66163

GDB:201753 (e-PCR)
- UniSTS:156054

GDB:4585717 (e-PCR)
- UniSTS:79511

GDB:201866 (e-PCR)
- UniSTS:156069

A008P30 (e-PCR)
- UniSTS:40130

PLANH1 (e-PCR)
- UniSTS:75750

GDB:512828 (e-PCR)
- UniSTS:54261

G10517 (e-PCR)
- UniSTS:77302

STS-D29544 (e-PCR)
- UniSTS:35580

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 more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	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

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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

NG_013213.1 RefSeqGene

Range

4992..17169

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_597

mRNA and Protein(s)

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
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
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
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
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
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
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
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
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
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
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
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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

101127104..101139247

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

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.