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Aliases for SERPINE1 Gene

Aliases for SERPINE1 Gene

  • Serpin Family E Member 1 2 3 5
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade E (Nexin, Plasminogen Activator Inhibitor Type 1), Member 1 2 3
  • Serpin Peptidase Inhibitor, Clade E (Nexin, Plasminogen Activator Inhibitor Type 1), Member 1 2 3
  • Endothelial Plasminogen Activator Inhibitor 3 4
  • Serpin E1 3 4
  • PLANH1 3 4
  • PAI-1 3 4
  • PAI1 3 4
  • PAI 3 4
  • Plasminogen Activator Inhibitor, Type I 2
  • Plasminogen Activator Inhibitor 1 3

External Ids for SERPINE1 Gene

Previous HGNC Symbols for SERPINE1 Gene

  • PLANH1
  • PAI1

Previous GeneCards Identifiers for SERPINE1 Gene

  • GC07P099254
  • GC07P100316
  • GC07P100330
  • GC07P100363
  • GC07P100558
  • GC07P100770
  • GC07P095363

Summaries for SERPINE1 Gene

Entrez Gene Summary for SERPINE1 Gene

  • 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]

GeneCards Summary for SERPINE1 Gene

SERPINE1 (Serpin Family E Member 1) is a Protein Coding gene. Diseases associated with SERPINE1 include Plasminogen Activator Inhibitor-1 Deficiency and Hepatic Veno-Occlusive Disease. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and ECM proteoglycans. GO annotations related to this gene include receptor binding and protease binding. An important paralog of this gene is SERPINE2.

UniProtKB/Swiss-Prot for SERPINE1 Gene

  • Serine protease inhibitor. This inhibitor acts as bait for tissue plasminogen activator, urokinase, protein C and matriptase-3/TMPRSS7. Its rapid interaction with PLAT may function as a major control point in the regulation of fibrinolysis.

Tocris Summary for SERPINE1 Gene

Gene Wiki entry for SERPINE1 Gene

Additional gene information for SERPINE1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SERPINE1 Gene

Genomics for SERPINE1 Gene

Regulatory Elements for SERPINE1 Gene

Enhancers for SERPINE1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H101098 2 FANTOM5 Ensembl ENCODE dbSUPER 13 -25.1 -25068 6 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 SERPINE1 VGF NAT16 MUC12 MBLAC1 MUC3A MUC17 TRIM56 PCOLCE-AS1 LOC102724094
GH07H101116 2 FANTOM5 Ensembl ENCODE dbSUPER 12 -3.3 -3346 15 HDGF FOXA2 MLX ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 FOS ENSG00000242798 GIGYF1 SRRT STAG3L5P PCOLCE-AS1 PILRB PPP1R35 SERPINE1 MBLAC1 MEPCE
GH07H101153 1.3 ENCODE dbSUPER 12.4 +28.7 28686 3 HDGF PKNOX1 ATF1 ARID4B SIN3A DMAP1 GLI4 ZNF2 YY1 ZNF121 AP1S1 NAT16 SERPINE1 FIS1 AZGP1P2 LNCPRESS1 MIR4653
GH07H101110 1 ENCODE dbSUPER 6.9 -13.8 -13780 4 JUN ZNF121 ZNF366 POLR2A FOS PRDM10 NFIA MTA2 NR3C1 NR2F2 VGF NAT16 MUC12 MUC3A MUC17 SERPINE1 MOSPD3 PCOLCE-AS1 PCOLCE TRIP6
GH07H101132 1.2 FANTOM5 ENCODE dbSUPER 2.4 +6.6 6614 1 PAF1 ZNF384 ZIC2 ZFHX2 POLR2A EGR1 GLIS1 IKZF1 PRDM10 MYC NAT16 PLOD3 SERPINE1 AP1S1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SERPINE1 on UCSC Golden Path with GeneCards custom track

Promoters for SERPINE1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000215895 511 1201 FOXA2 ARID4B SIN3A DMAP1 YY1 ZNF143 FOS PAF1 SP5 ZHX2

Genomic Location for SERPINE1 Gene

Chromosome:
7
Start:
101,127,089 bp from pter
End:
101,139,266 bp from pter
Size:
12,178 bases
Orientation:
Plus strand

Genomic View for SERPINE1 Gene

Genes around SERPINE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERPINE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERPINE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERPINE1 Gene

Proteins for SERPINE1 Gene

  • Protein details for SERPINE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05121-PAI1_HUMAN
    Recommended name:
    Plasminogen activator inhibitor 1
    Protein Accession:
    P05121
    Secondary Accessions:
    • B7Z4S0
    • F8WD53

    Protein attributes for SERPINE1 Gene

    Size:
    402 amino acids
    Molecular mass:
    45060 Da
    Quaternary structure:
    • Forms protease inhibiting heterodimer with TMPRSS7. Interacts with VTN. Binds LRP1B; binding is followed by internalization and degradation.

    Three dimensional structures from OCA and Proteopedia for SERPINE1 Gene

    Alternative splice isoforms for SERPINE1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SERPINE1 Gene

Post-translational modifications for SERPINE1 Gene

  • Inactivated by proteolytic attack of the urokinase-type (u-PA) and the tissue-type (TPA), cleaving the 369-Arg- -Met-370 bond.
  • Glycosylation at Asn232, Asn288, and isoforms=2352
  • Modification sites at PhosphoSitePlus

Other Protein References for SERPINE1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for SERPINE1 (Serpin E1/PAI-1)
  • Cell Signaling Technology (CST) Antibodies for SERPINE1 (SERPINE1)

Assay Products

No data available for DME Specific Peptides for SERPINE1 Gene

Domains & Families for SERPINE1 Gene

Gene Families for SERPINE1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for SERPINE1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SERPINE1 Gene

Graphical View of Domain Structure for InterPro Entry

P05121

UniProtKB/Swiss-Prot:

PAI1_HUMAN :
  • Belongs to the serpin family.
Family:
  • Belongs to the serpin family.
genes like me logo Genes that share domains with SERPINE1: view

Function for SERPINE1 Gene

Molecular function for SERPINE1 Gene

UniProtKB/Swiss-Prot Function:
Serine protease inhibitor. This inhibitor acts as bait for tissue plasminogen activator, urokinase, protein C and matriptase-3/TMPRSS7. Its rapid interaction with PLAT may function as a major control point in the regulation of fibrinolysis.

Phenotypes From GWAS Catalog for SERPINE1 Gene

Gene Ontology (GO) - Molecular Function for SERPINE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 2503541
GO:0004867 serine-type endopeptidase inhibitor activity TAS,IDA --
GO:0005102 receptor binding IPI 8626514
GO:0005515 protein binding IPI 16272158
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with SERPINE1: view
genes like me logo Genes that share phenotypes with SERPINE1: view

Human Phenotype Ontology for SERPINE1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SERPINE1 Gene

MGI Knock Outs for SERPINE1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SERPINE1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SERPINE1 Gene

Localization for SERPINE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPINE1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SERPINE1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 3
cytoskeleton 2
peroxisome 2
nucleus 2
lysosome 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SERPINE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,IDA --
GO:0005615 extracellular space IEA,IDA 1695900
GO:0005886 plasma membrane TAS --
GO:0031012 extracellular matrix IDA 1632457
GO:0031093 platelet alpha granule lumen TAS --
genes like me logo Genes that share ontologies with SERPINE1: view

Pathways & Interactions for SERPINE1 Gene

genes like me logo Genes that share pathways with SERPINE1: view

Gene Ontology (GO) - Biological Process for SERPINE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001300 chronological cell aging IEP 18974388
GO:0001525 angiogenesis IEP 11866539
GO:0002576 platelet degranulation TAS --
GO:0007623 circadian rhythm TAS --
GO:0010466 negative regulation of peptidase activity IEA --
genes like me logo Genes that share ontologies with SERPINE1: view

No data available for SIGNOR curated interactions for SERPINE1 Gene

Drugs & Compounds for SERPINE1 Gene

(91) Drugs for SERPINE1 Gene - From: DrugBank, PharmGKB, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Urokinase Approved, Investigational, Withdrawn Pharma activator, Target 0
Dexamethasone Approved, Investigational, Vet_approved Pharma Agonist 2239
atorvastatin Approved Pharma Competitive, Inhibitor 0
Simvastatin Approved Pharma Competitive, Inhibitor HMG-CoA reductase inhibitor 528
Alteplase Approved Pharma Target 0

(50) Additional Compounds for SERPINE1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SERPINE1: view

Transcripts for SERPINE1 Gene

mRNA/cDNA for SERPINE1 Gene

(3) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(21) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SERPINE1 Gene

Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SERPINE1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SERPINE1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9
SP1:
SP2: - -
SP3: -
SP4: - - - - -
SP5: - - - - - -

Relevant External Links for SERPINE1 Gene

GeneLoc Exon Structure for
SERPINE1
ECgene alternative splicing isoforms for
SERPINE1

Expression for SERPINE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SERPINE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SERPINE1 Gene

This gene is overexpressed in Artery - Aorta (x8.2), Artery - Coronary (x6.6), and Liver (x5.4).

Protein differential expression in normal tissues from HIPED for SERPINE1 Gene

This gene is overexpressed in Amniocyte (31.3), Bone marrow mesenchymal stem cell (16.5), and Serum (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SERPINE1 Gene



NURSA nuclear receptor signaling pathways regulating expression of SERPINE1 Gene:

SERPINE1

SOURCE GeneReport for Unigene cluster for SERPINE1 Gene:

Hs.414795

mRNA Expression by UniProt/SwissProt for SERPINE1 Gene:

P05121-PAI1_HUMAN
Tissue specificity: Found in plasma and platelets and in endothelial, hepatoma and fibrosarcoma cells.

Evidence on tissue expression from TISSUES for SERPINE1 Gene

  • Lung(4.8)
  • Skin(4.5)
  • Liver(4.3)
  • Pancreas(3.8)
  • Blood(3.7)
  • Heart(3.6)
  • Kidney(3.1)
  • Bone(3)
  • Nervous system(3)
  • Intestine(2.8)
  • Muscle(2.7)
  • Eye(2.3)
  • Gall bladder(2.3)
  • Lymph node(2.3)
  • Adrenal gland(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SERPINE1 Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
  • reproductive
Organs:
Pelvis:
  • uterus
General:
  • blood
  • coagulation system
genes like me logo Genes that share expression patterns with SERPINE1: view

Primer Products

No data available for Protein tissue co-expression partners for SERPINE1 Gene

Orthologs for SERPINE1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SERPINE1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SERPINE1 33 34
  • 99.83 (n)
cow
(Bos Taurus)
Mammalia SERPINE1 33 34
  • 86.48 (n)
dog
(Canis familiaris)
Mammalia PAI-1 34
  • 86 (a)
OneToOne
SERPINE1 33
  • 85.32 (n)
rat
(Rattus norvegicus)
Mammalia Serpine1 33
  • 81.51 (n)
mouse
(Mus musculus)
Mammalia Serpine1 33 16 34
  • 80.76 (n)
oppossum
(Monodelphis domestica)
Mammalia SERPINE1 34
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SERPINE1 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia serpine1 33
  • 57.98 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25094 33
zebrafish
(Danio rerio)
Actinopterygii serpine1 33 34
  • 56.55 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta SRPN1 33
  • 46.68 (n)
Species where no ortholog for SERPINE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SERPINE1 Gene

ENSEMBL:
Gene Tree for SERPINE1 (if available)
TreeFam:
Gene Tree for SERPINE1 (if available)

Paralogs for SERPINE1 Gene

Variants for SERPINE1 Gene

Sequence variations from dbSNP and Humsavar for SERPINE1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1050813 Likely benign 101,138,334(+) TCACC(A/G)TATCT utr-variant-3-prime
rs201293550 Likely benign 101,131,924(+) ACACG(C/G)CTGGT reference, synonymous-codon
rs2227700 Likely benign 101,138,800(+) AAAGA(C/T)GGATG utr-variant-3-prime
rs2227714 Likely benign 101,138,628(+) AATTA(C/T)AGGGT utr-variant-3-prime
rs374321581 Likely benign 101,138,194(+) CCCCC(A/C)AATCT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SERPINE1 Gene

Variant ID Type Subtype PubMed ID
dgv1941e212 CNV loss 25503493
dgv1942e212 CNV loss 25503493
esv2422376 CNV duplication 17116639
esv2734888 CNV deletion 23290073
nsv1018841 CNV gain 25217958
nsv1030604 CNV gain 25217958
nsv1033081 CNV gain 25217958
nsv607972 CNV loss 21841781
nsv607973 CNV loss 21841781
nsv831075 CNV loss 17160897

Variation tolerance for SERPINE1 Gene

Residual Variation Intolerance Score: 40.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.51; 64.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SERPINE1 Gene

Human Gene Mutation Database (HGMD)
SERPINE1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERPINE1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINE1 Gene

Disorders for SERPINE1 Gene

MalaCards: The human disease database

(95) MalaCards diseases for SERPINE1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
plasminogen activator inhibitor-1 deficiency
  • plasminogen activator inhibitor type 1 deficiency
hepatic veno-occlusive disease
  • veno-occlusive disease
arteriosclerosis
  • arteriosclerosis nos
venous insufficiency
  • peripheral venous insufficiency
disseminated intravascular coagulation
  • defibrination syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PAI1_HUMAN
  • Note=High concentrations of SERPINE1 seem to contribute to the development of venous but not arterial occlusions.
  • Plasminogen activator inhibitor-1 deficiency (PAI-1D) [MIM:613329]: A hematologic disorder characterized by increased bleeding after trauma, injury, or surgery. Affected females have menorrhagia. The bleeding defect is due to increased fibrinolysis of fibrin blood clots due to deficiency of plasminogen activator inhibitor-1, which inhibits tissue and urinary activators of plasminogen. {ECO:0000269 PubMed:9207454}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SERPINE1

Genetic Association Database (GAD)
SERPINE1
Human Genome Epidemiology (HuGE) Navigator
SERPINE1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SERPINE1
genes like me logo Genes that share disorders with SERPINE1: view

No data available for Genatlas for SERPINE1 Gene

Publications for SERPINE1 Gene

  1. Angiotensin-converting enzyme D/I and plasminogen activator inhibitor-1 4G/5G gene polymorphisms are associated with increased risk of spontaneous abortions in polycystic ovarian syndrome. (PMID: 19636212) Sun L … Guan Y (Journal of endocrinological investigation 2010) 3 22 45 60
  2. Impact of genetic polymorphisms on platelet function and aspirin resistance. (PMID: 19923980) Pamukcu B … Nisanci Y (Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2010) 3 22 45 60
  3. Polymorphisms in NOS3, ACE and PAI-1 genes and risk of spontaneous recurrent miscarriage in the Gaza Strip. (PMID: 20134171) Al Sallout RJ … Sharif FA (Medical principles and practice : international journal of the Kuwait University, Health Science Centre 2010) 3 22 45 60
  4. Causal relationship of susceptibility genes to ischemic stroke: comparison to ischemic heart disease and biochemical determinants. (PMID: 20161734) Bentley P … Sharma P (PloS one 2010) 3 22 45 60
  5. PAI-1 gene: pharmacogenetic association of 4G/4G genotype with bleeding after cardiac surgery--pilot study. (PMID: 19521296) Sirgo G … Rello J (European journal of anaesthesiology 2009) 3 22 45 60

Products for SERPINE1 Gene

Sources for SERPINE1 Gene

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