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
External Ids for SERPINE1 Gene
- HGNC: 8583
- Entrez Gene: 5054
- Ensembl: ENSG00000106366
- OMIM: 173360
- UniProtKB: P05121
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
-
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 Complete Plasminogen Activator Inhibitor 1 Deficiency. Among its related pathways are Toll-like receptor signaling pathway and TGF-beta Receptor Signaling (WikiPathways). Gene Ontology (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.
Additional gene information for SERPINE1 Gene
- Monarch Initiative
- Search for SERPINE1 at DataMed
- Search for SERPINE1 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SERPINE1 Gene
Genomics for SERPINE1 Gene
GeneHancer (GH) Regulatory Elements for SERPINE1 Gene
Promoters and enhancers for SERPINE1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around SERPINE1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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)
Genomic View for SERPINE1 Gene
Genes around SERPINE1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7q22.1 by Ensembl
- 7q22.1 by Entrez Gene
- 7q22.1 by HGNC
SERPINE1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression 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 isoforms=2232, posLast=288288, and isoforms=2352
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)
-
Custom Antibody ServicesOriGene Antibodies for SERPINE1
- Novus Biologicals Antibodies for SERPINE1
-
Abcam antibodies for SERPINE1
-
Cloud-Clone Corp. Antibodies for SERPINE1
- Invitrogen Antibodies for SERPINE1
- GeneTex SERPINE1 antibody for SERPINE1
-
Santa Cruz Biotechnology (SCBT) Antibodies for SERPINE1
Protein Products
- R&D Systems Proteins and Enzymes for SERPINE1 (Serpin E1/PAI-1)
-
OriGene Purified Proteins for SERPINE1
- Search Origene for MassSpec and Protein Over-expression Lysates for SERPINE1
- Origene Custom Protein Services for SERPINE1
- ProSpec Recombinant Proteins for SERPINE1
-
Cloud-Clone Corp. Proteins for SERPINE1
- GeneTex Proteins for SERPINE1
-
Abcam proteins for SERPINE1
Assay Products
-
Custom Assay ServicesOriGene ELISA Kits for SERPINE1
- R&D Systems Proteome Profiler Antibody Arrays, Luminex Assays, ELISAs, and other biochemical assays for SERPINE1 (Serpin E1/PAI-1)
- Novus Biologicals 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
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for SERPINE1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P05121- Family:
-
- Belongs to the serpin family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002020 | protease binding | IPI | 2503541 |
| GO:0004867 | serine-type endopeptidase inhibitor activity | IDA,TAS | -- |
| GO:0005102 | receptor binding | IPI | 8626514 |
| GO:0005515 | protein binding | IPI | 16272158 |
| GO:0030414 | peptidase inhibitor activity | IEA | -- |
Phenotypes for SERPINE1 Gene
- MGI mutant phenotypes for SERPINE1:
-
inferred from 2 alleles
- homeostasis/metabolism phenotype
- respiratory system phenotype
- cardiovascular system phenotype
- mortality/aging
- immune system phenotype
- growth/size/body region phenotype
- neoplasm
- integument phenotype
- hematopoietic system phenotype
- renal/urinary system phenotype
- liver/biliary system phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for SERPINE1:
-
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Decreased NF-kappaB reporter expression
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased IL-8 secretion
- Increased transcriptional activity
- Increased HPV18 LCR reporter activity
- Synthetic lethal with vaccinia virus (VACV) infection
- Weakly decreased NFAT1-GFP nuclear translocation
- Negative genetic interaction between BLM-/- and BLM+/+
- Decreased melanin production
Animal Models for SERPINE1 Gene
- MGI Knock Outs for SERPINE1:
-
- Serpine1 tm1Mlg
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for SERPINE1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for SERPINE1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SERPINE1 gene
- Search ViGene Biosciences for SERPINE1
CRISPR Products
-
OriGene CRISPR knockouts for SERPINE1
- genomics-online: gRNA clones - Search results for 95 available SERPINE1 gene related products
- Overview of 95 available SERPINE1 gene related products
- Applied Biological Materials CRISPR for SERPINE1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SERPINE1
- GenScript: Design CRISPR guide RNA sequences for SERPINE1
miRNA for SERPINE1 Gene
- miRTarBase miRNAs that target SERPINE1
-
- hsa-mir-204-5p (MIRT005844)
- hsa-mir-30c-5p (MIRT005971)
- hsa-mir-301a-3p (MIRT005972)
- hsa-mir-99a-5p (MIRT005973)
- hsa-mir-143-3p (MIRT006316)
- hsa-mir-145-5p (MIRT006317)
- hsa-mir-138-5p (MIRT021688)
- hsa-mir-124-3p (MIRT022189)
- hsa-mir-148a-3p (MIRT053477)
- hsa-mir-486-5p (MIRT054106)
- hsa-mir-30b-5p (MIRT054139)
- hsa-mir-30a-5p (MIRT244292)
- hsa-mir-30d-5p (MIRT244293)
- hsa-mir-224-5p (MIRT244294)
- hsa-mir-30e-5p (MIRT244295)
- hsa-mir-6882-5p (MIRT244297)
- hsa-mir-3977 (MIRT534384)
- hsa-mir-519d-5p (MIRT534385)
- hsa-mir-3145-5p (MIRT534386)
- hsa-mir-1273d (MIRT534387)
- hsa-mir-10a-5p (MIRT731180)
- hsa-mir-192-5p (MIRT735499)
miRNA Products
- Search ViGene Biosciences for SERPINE1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SERPINE1
- Browse OriGene Inhibitory RNA Products For SERPINE1
- genomics-online: shRNA clones - Search results for 95 available SERPINE1 gene related products
- Overview of 95 available SERPINE1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SERPINE1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SERPINE1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SERPINE1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for SERPINE1
- Applied Biological Materials Clones for SERPINE1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
- ESI BIO PureStem ES-210, Ecto-ntu Progenitor for SERPINE1
-
Horizon Cell Lines for SERPINE1
-
ViGene Biosciences adenoviral particle packaged cDNA for SERPINE1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SERPINE1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SERPINE1 gene
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| cytosol | 3 |
| cytoskeleton | 2 |
| peroxisome | 2 |
| nucleus | 2 |
| lysosome | 2 |
| mitochondrion | 1 |
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS,IDA | -- |
| GO:0005615 | extracellular space | IDA,IEA | 1695900 |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0031012 | extracellular matrix | IDA | 1632457 |
| GO:0031093 | platelet alpha granule lumen | TAS | -- |
Pathways & Interactions for SERPINE1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
| 2 | Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer | ||
| 3 | Folate Metabolism | ||
| 4 | Complement and coagulation cascades | ||
| 5 | Formation of Fibrin Clot (Clotting Cascade) | ||
Pathways by source for SERPINE1 Gene
2 Cell Signaling Technology pathways for SERPINE1 Gene
17 BioSystems pathways for SERPINE1 Gene
15 Reactome pathways for SERPINE1 Gene
5 GeneGo (Thomson Reuters) pathways for SERPINE1 Gene
1 R&D Systems pathway for SERPINE1 Gene
1 Qiagen pathway for SERPINE1 Gene
Interacting Proteins for SERPINE1 Gene
Selected Interacting proteins:
ENSP00000223095
P05121-PAI1_HUMAN
for SERPINE1 Gene via
STRING
MINT
UniProtKB
IID
| 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 | -- |
No data available for SIGNOR curated interactions for SERPINE1 Gene
Drugs & Compounds for SERPINE1 Gene
| 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 | 2314 | ||
| atorvastatin | Approved | Pharma | Competitive, Inhibitor | 0 | ||
| Simvastatin | Approved | Pharma | Competitive, Inhibitor | HMG-CoA reductase inhibitor | 537 | |
| Alteplase | Approved | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
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
CRISPR Products
-
OriGene CRISPR knockouts for SERPINE1
- genomics-online: gRNA clones - Search results for 95 available SERPINE1 gene related products
- Overview of 95 available SERPINE1 gene related products
- Applied Biological Materials CRISPR for SERPINE1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SERPINE1
- GenScript: Design CRISPR guide RNA sequences for SERPINE1
miRNA Products
- Search ViGene Biosciences for SERPINE1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SERPINE1
- Browse OriGene Inhibitory RNA Products For SERPINE1
- genomics-online: shRNA clones - Search results for 95 available SERPINE1 gene related products
- Overview of 95 available SERPINE1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SERPINE1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SERPINE1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SERPINE1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for SERPINE1
- Applied Biological Materials Clones for SERPINE1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | ||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - |
Expression for SERPINE1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Inner Cell Mass (Early Embryonic Tissues)
-
Placenta (Extraembryonic Tissues)
- Extravillous Cytotrophoblast Cells Extravillous Cytotrophoblast Layer
- Decidua-derived mesenchymal stem cells
- Placenta-derived mesenchymal stem cells (family)
- Mesenchymal Stem Cells (Uncategorized)
-
Epithelial Cells
- Outer Root Sheath Cells Outer Root Sheath
- Basal Cells Respiratory Bronchioles
- Cartilage (Muscoskeletal System)
- Bone (Muscoskeletal System)
-
Fibroblasts
- Detroit 551
- Cardiac Fibroblasts Myocardium
-
Hair (Integumentary System)
- Outer Root Sheath Cells Outer Root Sheath
-
Lung (Respiratory System)
- Basal Cells Respiratory Bronchioles
-
Extraembryonic Mesoderm (Extraembryonic Tissues)
- Extraembryonic Mural Cells Extraembryonic Mesoderm
-
Epiblast (Early Embryo)
- Extraembryonic Mural Cells Extraembryonic Mesoderm
-
Primitive Streak (Early Embryo)
- Extraembryonic Mural Cells Extraembryonic Mesoderm
- Dermis (Integumentary System)
- Smooth Muscle (Muscoskeletal System)
- Endothelium (Cardiovascular System)
- Amnion (Extraembryonic Tissues)
-
Heart (Cardiovascular System)
- Cardiac Fibroblasts Myocardium
-
Ovary (Reproductive System)
-
Pancreas (Endocrine System)
-
Liver (Hepatobiliary System)
-
Adrenal Gland (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Umbilical Cord (Extraembryonic Tissues)
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).
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:
SERPINE1SOURCE GeneReport for Unigene cluster for SERPINE1 Gene:
Hs.414795mRNA 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(2.9)
- Muscle(2.7)
- Eye(2.3)
- Gall bladder(2.3)
- Lymph node(2.3)
- Adrenal gland(2.2)
- 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
Primer Products
-
OriGene qPCR primer pairs for SERPINE1
-
OriGene qPCR primer pairs and template standards for SERPINE1
- genomics-online: primer clones - Search results for 95 available SERPINE1 gene related products
- Overview of 95 available SERPINE1 gene related 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SERPINE1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | SERPINE1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | PAI-1 34 |
|
OneToOne | |
| SERPINE1 33 |
|
||||
| rat (Rattus norvegicus) |
Mammalia | Serpine1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Serpine1 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SERPINE1 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | SERPINE1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | serpine1 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.25094 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | serpine1 33 34 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | SRPN1 33 |
|
- 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)
Paralogs for SERPINE1 Gene
Paralogs for SERPINE1 Gene
(26) SIMAP similar genes for SERPINE1 Gene using alignment to 1 proteins:
Variants 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, genic_downstream_transcript_variant | |
| rs1050955 | benign, Plasminogen activator inhibitor type 1 deficiency | 101,139,179(+) | G/A | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs11178 | benign, Plasminogen activator inhibitor type 1 deficiency | 101,137,803(+) | T/C | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs1799762 | pathogenic, other, Transcription level of plasminogen activator inhibitor 1 | 101,126,426(+) | GGGG/GGGGG | upstream_transcript_variant | |
| rs200318916 | uncertain-significance, Plasminogen activator inhibitor type 1 deficiency | 101,130,605(+) | G/C | coding_sequence_variant, synonymous_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv831075 | CNV | loss | 17160897 |
| nsv607973 | CNV | loss | 21841781 |
| nsv607972 | CNV | loss | 21841781 |
| nsv1033081 | CNV | gain | 25217958 |
| nsv1030604 | CNV | gain | 25217958 |
| nsv1018841 | CNV | gain | 25217958 |
| esv2734888 | CNV | deletion | 23290073 |
| esv2422376 | CNV | duplication | 17116639 |
| dgv1942e212 | CNV | loss | 25503493 |
| dgv1941e212 | CNV | loss | 25503493 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINE1 Gene
Disorders for SERPINE1 Gene
(98) MalaCards diseases for SERPINE1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| plasminogen activator inhibitor-1 deficiency |
|
|
| complete plasminogen activator inhibitor 1 deficiency |
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| hepatic veno-occlusive disease |
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| venous insufficiency |
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| arteriosclerosis |
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Search SERPINE1 in MalaCards
View complete list of genes associated with diseases
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.
Additional Disease Information for SERPINE1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SERPINE1 Gene
Publications for SERPINE1 Gene
- 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 44 58
- 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 44 58
- 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 44 58
- 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 44 58
- 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 44 58
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Sources for SERPINE1 Gene
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