SERPINE1 Gene (Protein Coding)

Serpin Family E Member 1

GC07P101127
GIFtS:
52
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 asso... See more...

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

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 Selenium Micronutrient Network and Development_Glucocorticoid receptor signaling. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and protease binding. An important paralog of this gene is SERPINE2.

UniProtKB/Swiss-Prot Summary for SERPINE1 Gene

  • Serine protease inhibitor. Inhibits TMPRSS7 (PubMed:15853774). Is a primary inhibitor of tissue-type plasminogen activator (PLAT) and urokinase-type plasminogen activator (PLAU). As PLAT inhibitor, it is required for fibrinolysis down-regulation and is responsible for the controlled degradation of blood clots (PubMed:8481516, PubMed:9207454, PubMed:17912461). As PLAU inhibitor, it is involved in the regulation of cell adhesion and spreading (PubMed:9175705). Acts as a regulator of cell migration, independently of its role as protease inhibitor (PubMed:15001579, PubMed:9168821). It is required for stimulation of keratinocyte migration during cutaneous injury repair (PubMed:18386027). It is involved in cellular and replicative senescence (PubMed:16862142). Plays a role in alveolar type 2 cells senescence in the lung (By similarity). Is involved in the regulation of cementogenic differentiation of periodontal ligament stem cells, and regulates odontoblast differentiation and dentin formation during odontogenesis (PubMed:25808697, PubMed:27046084).

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 , Rfam classification and piRNA Summary for SERPINE1 Gene

Genomics for SERPINE1 Gene

GeneHancer (GH) Regulatory Elements for SERPINE1 Gene

Promoters and enhancers for SERPINE1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH07J101116 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 761.9 -3.3 -3291 15.2 SIN3A ZBTB40 LCORL MLX FOXA1 RBPJ SMARCE1 POLR2A USF2 NR2F1 SERPINE1 ENSG00000242798 SRRT GIGYF1 STAG3L5P PCOLCE-AS1 MEPCE PILRB PPP1R35 MBLAC1
GH07J101153 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.4 +28.7 28675 3.9 SIN3A ZBTB40 HLF RBM39 L3MBTL2 ZNF121 MNT POLR2A MTA3 ZNF148 AP1S1 GIGYF1 SRRT NAT16 STAG3L5P SERPINE1 PCOLCE PPP1R35 PILRB FIS1
GH07J101098 Enhancer 1.5 FANTOM5 ENCODE dbSUPER 13 -25.1 -25079 6.3 ZBTB40 SREBF1 ZBTB6 MLX RBPJ SMARCE1 POLR2A USF2 NR2F1 NR2F6 PCOLCE GIGYF1 TRIM56 SRRT STAG3L5P SERPINE1 NYAP1 VGF NAT16 TRIP6
GH07J101110 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 6.9 -13.8 -13780 4.9 ZNF121 SP1 PRDM1 POLR2A RXRA PRDM10 ZNF512 MTA2 JUND PKNOX1 VGF NAT16 MUC12 MUC3A MUC17 SERPINE1 MOSPD3 PCOLCE-AS1 PCOLCE TRIP6
GH07J101132 Promoter/Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 2.4 +6.6 6614 1.8 MYC ZNF384 PRDM1 EGR1 IKZF1 ZIC2 PRDM10 ZFHX2 POLR2A PAF1 MEPCE SRRT PPP1R35 FBXO24 PMS2P1 NAT16 ZCWPW1 PLOD3 SERPINE1 lnc-VGF-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SERPINE1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SERPINE1 gene promoter:
  • AML1a
  • AP-1
  • AP-2gamma
  • ATF6
  • CREB
  • deltaCREB
  • GATA-2
  • HEN1
  • JunB
  • SEF-1 (1)

Genomic Locations for SERPINE1 Gene

Genomic Locations for SERPINE1 Gene
chr7:101,127,089-101,139,266
(GRCh38/hg38)
Size:
12,178 bases
Orientation:
Plus strand
chr7:100,770,370-100,782,547
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for SERPINE1 Gene

Proteins for SERPINE1 Gene

Products:

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  • 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 a heterodimer with TMPRSS7 (PubMed:15853774). Interacts with VTN (PubMed:7522053). Binds LRP1B; binding is followed by internalization and degradation (PubMed:11384978). Interacts with PPP1CB (PubMed:28296156). In complex with PLAU/uPA, interacts with PLAUR/uPAR (PubMed:15053742). Interacts with SORL1 and LRP1, either alone or in complex with PLAU; these interactions are abolished in the presence of LRPAP1/RAP (PubMed:15053742). The ternary complex composed of PLAUR-PLAU-PAI1 also interacts with SORL1 (PubMed:15053742). Also interacts with SORL1, when complexed to PLAT/tPA (PubMed:15053742).

    Three dimensional structures from OCA and Proteopedia for SERPINE1 Gene

    Alternative splice isoforms for SERPINE1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SERPINE1 Gene

Protein Expression for SERPINE1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 Asn352
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • PAI1_HUMAN (639)

Other Protein References for SERPINE1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for SERPINE1

Protein Products

Assay Products

  • Boster Bio ELISA Kits for SERPINE1
  • Abcam assays for SERPINE1

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

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SERPINE1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ61097, highly similar to Plasminogen activator inhibitor 1 (B7Z1D9_HUMAN)
  • Serpin E1 (PAI1_HUMAN)
  • PAI1 protein (Q6LEK1_HUMAN)

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

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  2. CRISPR
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Molecular function for SERPINE1 Gene

UniProtKB/Swiss-Prot Function:
Serine protease inhibitor. Inhibits TMPRSS7 (PubMed:15853774). Is a primary inhibitor of tissue-type plasminogen activator (PLAT) and urokinase-type plasminogen activator (PLAU). As PLAT inhibitor, it is required for fibrinolysis down-regulation and is responsible for the controlled degradation of blood clots (PubMed:8481516, PubMed:9207454, PubMed:17912461). As PLAU inhibitor, it is involved in the regulation of cell adhesion and spreading (PubMed:9175705). Acts as a regulator of cell migration, independently of its role as protease inhibitor (PubMed:15001579, PubMed:9168821). It is required for stimulation of keratinocyte migration during cutaneous injury repair (PubMed:18386027). It is involved in cellular and replicative senescence (PubMed:16862142). Plays a role in alveolar type 2 cells senescence in the lung (By similarity). Is involved in the regulation of cementogenic differentiation of periodontal ligament stem cells, and regulates odontoblast differentiation and dentin formation during odontogenesis (PubMed:25808697, PubMed:27046084).

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 IDA 1695900
GO:0005102 signaling 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

Clone Products

Cell Line Products

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
extracellular 5
plasma membrane 4
cytosol 3
cytoskeleton 2
nucleus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
See all subcellular structures

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 IDA,IBA 1695900
GO:0005886 plasma membrane TAS --
GO:0031093 platelet alpha granule lumen TAS --
GO:0062023 collagen-containing extracellular matrix IDA 1632457
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

SIGNOR curated interactions for SERPINE1 Gene

Is activated by:
Is inactivated by:

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

Drugs & Compounds for SERPINE1 Gene

Products:

  1. Drug

(92) 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 Target, activator 0
Dexamethasone Approved, Investigational, Vet_approved Pharma Agonist Anti-inflammatory glucocorticoid 2680
Atorvastatin Approved Pharma Competitive, Inhibitor 862
Simvastatin Approved Pharma Competitive, Inhibitor HMG-CoA reductase inhibitor 568
Alteplase Approved Pharma Target 0

(49) 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

Drug Products

Transcripts for SERPINE1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SERPINE1 Gene

(2) REFSEQ mRNAs :
(20) Additional mRNA sequences :
(21) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for SERPINE1 Gene
mRNA expression by BioGPS for SERPINE1 GenemRNA expression by GTEx 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, 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: Expressed in endothelial cells (PubMed:2430793, PubMed:3097076). Found in plasma, platelets, and 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(2.9)
  • Muscle(2.7)
  • Adrenal gland(2.3)
  • Eye(2.3)
  • Gall bladder(2.3)
  • Lymph node(2.3)
  • Thyroid gland(2)

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

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

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 32
  • 99.83 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia SERPINE1 33 32
  • 86.48 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia PAI-1 33
  • 86 (a)
 OneToOne
SERPINE1 32
  • 85.32 (n)
rat
(Rattus norvegicus)
 Mammalia Serpine1 32
  • 81.51 (n)
mouse
(Mus musculus)
 Mammalia Serpine1 17 33 32
  • 80.76 (n)
oppossum
(Monodelphis domestica)
 Mammalia SERPINE1 33
  • 75 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia SERPINE1 33
  • 66 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia serpine1 32
  • 57.98 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.25094 32
zebrafish
(Danio rerio)
 Actinopterygii serpine1 33 32
  • 56.55 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta SRPN1 32
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SERPINE1: view image

Paralogs for SERPINE1 Gene

Variants for SERPINE1 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for SERPINE1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1050813 likely-benign, Plasminogen activator inhibitor type 1 deficiency 101,138,334(+) G/A 3_prime_UTR_variant
rs1050955 benign, Plasminogen activator inhibitor type 1 deficiency 101,139,179(+) G/A 3_prime_UTR_variant
rs11178 benign, Plasminogen activator inhibitor type 1 deficiency 101,137,803(+) T/C 3_prime_UTR_variant
rs1194865614 pathogenic, Plasminogen activator inhibitor type 1 deficiency 101,132,066(+) TATA/TATATA coding_sequence_variant, frameshift
rs1554362148 pathogenic, Plasminogen activator inhibitor type 1 deficiency 101,130,505(+) C/CC coding_sequence_variant, frameshift

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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
plasminogen activator inhibitor-1 deficiency
  • hyperfibrinolysis due to pai1 deficiency
hepatic veno-occlusive disease
  • budd-chiari syndrome
central serous chorioretinopathy
  • central serous chorioretinopathy after bone marrow transplantation
complete plasminogen activator inhibitor 1 deficiency
  • hyperfibrinolysis due to pai1 deficiency
fibrosarcoma
  • fibrocytic tumor
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PAI1_HUMAN
  • 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:8481516, ECO:0000269 PubMed:9207454}. Note=The disease is caused by mutations affecting the gene represented in this entry. A rare PAI-1D mutation resulting in a frameshift and protein truncation has been found in an Old Order Amish community. Homozygous mutation carriers suffer from episodes of major hemorrhage, while heterozygous carriers do not manifest abnormal bleeding (PubMed:9207454). Heterozygosity for the mutation is associated with longer leukocyte telomere length, lower fasting insulin levels, lower prevalence of diabetes mellitus, and a longer life span (PubMed:29152572). {ECO:0000269 PubMed:29152572, ECO:0000269 PubMed:9207454}.

Additional Disease Information for SERPINE1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 23 43 56
  2. 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 23 43 56
  3. 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 23 43 56
  4. 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 23 43 56
  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 23 43 56

ExternalLinks

View latest publications for SERPINE1 gene in Mastermind

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