Human Gene SERPINE1 (ENST00000223095.5_4) from GENCODE V47lift37
Description: serpin family E member 1, transcript variant 12 (from RefSeq NM_001386466.1)
Gencode Transcript: ENST00000223095.5_4
Gencode Gene: ENSG00000106366.9_7
Transcript (Including UTRs)
Position: hg19 chr7:100,770,385-100,782,528 Size: 12,144 Total Exon Count: 9 Strand: +
Coding Region
Position: hg19 chr7:100,771,675-100,780,723 Size: 9,049 Coding Exon Count: 8
Data last updated at UCSC: 2024-08-22 23:36:26
Sequence and Links to Tools and Databases
Comments and Description Text from UniProtKB
ID: PAI1_HUMAN
DESCRIPTION: RecName: Full=Plasminogen activator inhibitor 1; Short=PAI; Short=PAI-1; AltName: Full=Endothelial plasminogen activator inhibitor; AltName: Full=Serpin E1; Flags: Precursor;
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.SUBUNIT: Forms protease inhibiting heterodimer with TMPRSS7. Interacts with VTN. Binds LRP1B; binding is followed by internalization and degradation.INTERACTION: P02763:ORM1; NbExp=4; IntAct=EBI-953978, EBI-976767;SUBCELLULAR LOCATION: Secreted.TISSUE SPECIFICITY: Found in plasma and platelets and in endothelial, hepatoma and fibrosarcoma cells.PTM: Inactivated by proteolytic attack of the urokinase-type (u- PA) and the tissue-type (TPA), cleaving the 369-Arg-|-Met-370 bond.DISEASE: Defects in SERPINE1 are the cause of plasminogen activator inhibitor-1 deficiency (PAI-1D) [MIM:613329] . It is 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.DISEASE: Note=High concentrations of SERPINE1 seem to contribute to the development of venous but not arterial occlusions.SIMILARITY: Belongs to the serpin family.WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SERPINE1";WEB RESOURCE: Name=Wikipedia; Note=Plasminogen activator inhibitor-1 entry; URL="http://en.wikipedia.org/wiki/Plasminogen_activator_inhibitor-1";WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/serpine1/";
Primer design for this transcript
MalaCards Disease Associations
MalaCards Gene Search: SERPINE1
Diseases sorted by gene-association score: plasminogen activator inhibitor-1 deficiency * (1390), hepatic veno-occlusive disease (21), arteriosclerosis (18), venous insufficiency (16), disseminated intravascular coagulation (15), fibrosarcoma (15), thrombophilia (14), central serous chorioretinopathy (13), renal fibrosis (13), buerger disease (13), familial hyperlipidemia (12), coronary artery disease (12), coronary thrombosis (12), vascular disease (12), chronic venous insufficiency (11), livedoid vasculopathy (11), inferior vena cava interruption (11), argentine hemorrhagic fever (10), post-thrombotic syndrome (10), malignant renovascular hypertension (10), legg-calve-perthes disease (10), osteonecrosis (10), carotid artery thrombosis (10), placenta accreta (10), abdominal obesity-metabolic syndrome 1 (9), meckel's diverticulum (9), peripheral vascular disease (9), coronary stenosis (9), acute myocardial infarction (9), factor xiii deficiency (9), portal vein thrombosis (9), intermittent claudication (9), hypertriglyceridemia (8), hyperhomocysteinemia (8), amaurosis fugax (8), hyperinsulinism (8), sticky platelet syndrome (8), quebec platelet disorder (8), neonatal stroke (8), adult respiratory distress syndrome (8), hellp syndrome (7), thrombophlebitis (7), retinal vein occlusion (7), chondromyxoid fibroma (7), thrombophilia due to thrombin defect (7), crescentic glomerulonephritis (7), ischemic colitis (7), thrombosis (7), tuberculous empyema (7), pulmonary embolism (7), intracranial hypertension (7), meningococcemia (7), stroke, ischemic (6), retinal artery occlusion (6), infective endocarditis (6), idiopathic interstitial pneumonia (6), cardiovascular disease risk factor ) (6), thrombophilia due to activated protein c resistance (6), catastrophic antiphospholipid syndrome (6), malignant secondary hypertension (6), angina pectoris (6), blue toe syndrome (6), lipid metabolism disorder (6), placental insufficiency (5), diabetes mellitus, noninsulin-dependent (5), paranasal sinus disease (5), subendocardial myocardial infarction (5), microvascular complications of diabetes 5 (5), dysbaric osteonecrosis (5), thrombotic thrombocytopenic purpura, acquired (5), ischemic bone disease (4), myocardial infarction (4), acute cor pulmonale (4), shwartzman phenomenon (4), hepatic vascular disease (4), ureteral disease (4), preeclampsia/eclampsia 1 (4), lemierre's syndrome (4), acute pulmonary heart disease (4), proliferative fasciitis (4), epileptic encephalopathy, childhood-onset (3), pre-eclampsia (3), artery disease (3), cerebrovascular disease (3), obesity (3), eclampsia (2), pulmonary hypertension (2), diabetes mellitus, insulin-dependent (2), essential thrombocythemia (2), hypertension, essential (2), breast cancer (2), overnutrition (1), acquired metabolic disease (1), glucose metabolism disease (1), autistic disorder (1)* = Manually curated disease association
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
InterPro Domains: Graphical view of domain structure IPR023795 - Protease_inhib_I4_serpin_CS
IPR023796 - Serpin_dom
IPR000215 - Serpin_fam
Pfam Domains: PF00079 - Serpin (serine protease inhibitor)
SCOP Domains: 56574 - Serpins
Protein Data Bank (PDB) 3-D Structure
ModBase Predicted Comparative 3D Structure on P05121
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Descriptions from all associated GenBank mRNAs
BX649164 - Homo sapiens mRNA; cDNA DKFZp686C073 (from clone DKFZp686C073).MS633418 - Sequence 1 from Patent WO2017042278.AK297728 - Homo sapiens cDNA FLJ53064 complete cds, highly similar to Plasminogen activator inhibitor 1 precursor.AK298048 - Homo sapiens cDNA FLJ51012 complete cds, highly similar to Plasminogen activator inhibitor 1 precursor.AK293248 - Homo sapiens cDNA FLJ61097 complete cds, highly similar to Plasminogen activator inhibitor 1 precursor.BC020765 - Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1, mRNA (cDNA clone IMAGE:4711115), with apparent retained intron.X04729 - Human mRNA for plasminogen activator inhibitor type 1 N-terminus.AK316225 - Homo sapiens cDNA, FLJ79124 complete cds, highly similar to Plasminogen activator inhibitor 1 precursor.BC010860 - Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1, mRNA (cDNA clone MGC:9226 IMAGE:3893914), complete cds.X04429 - Human mRNA for endothelial plasminogen activator inhibitor (PAI).X12701 - H.sapiens mRNA for endothelial plasminogen activator inhibitor PAI.BC005927 - Homo sapiens cDNA clone IMAGE:4043857.M16006 - Human plasminogen activator inhibitor-1 (PAI-1) mRNA, complete cds.JD156267 - Sequence 137291 from Patent EP1572962.JD260250 - Sequence 241274 from Patent EP1572962.DD229989 - A DNA ENZYME TO INHIBIT PLASMINOGEN ACTIVATOR INHIBITOR-1.AB463255 - Synthetic construct DNA, clone: pF1KB5685, Homo sapiens SERPINE1 gene for serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1, without stop codon, in Flexi system.DQ890694 - Synthetic construct clone IMAGE:100003324; FLH165200.01X; RZPDo839H02158D serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1) gene, encodes complete protein.DQ893877 - Synthetic construct Homo sapiens clone IMAGE:100008337; FLH165196.01L; RZPDo839H02157D serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1) gene, encodes complete protein.KJ897292 - Synthetic construct Homo sapiens clone ccsbBroadEn_06686 SERPINE1 gene, encodes complete protein.X04744 - Human mRNA for plasminogen activator inhibitor (PAI-1).M14083 - Human beta-migrating plasminogen activator inhibitor I mRNA, 3' end.X04731 - Human mRNA for plasminogen activator inhibitor type 1 C-terminus.JD530235 - Sequence 511259 from Patent EP1572962.JD095611 - Sequence 76635 from Patent EP1572962.JD078776 - Sequence 59800 from Patent EP1572962.JD353711 - Sequence 334735 from Patent EP1572962.JD489494 - Sequence 470518 from Patent EP1572962.JD328328 - Sequence 309352 from Patent EP1572962.JD428061 - Sequence 409085 from Patent EP1572962.JD539248 - Sequence 520272 from Patent EP1572962.JD051089 - Sequence 32113 from Patent EP1572962.JD318438 - Sequence 299462 from Patent EP1572962.JD066529 - Sequence 47553 from Patent EP1572962.JD308394 - Sequence 289418 from Patent EP1572962.JD541644 - Sequence 522668 from Patent EP1572962.JD386184 - Sequence 367208 from Patent EP1572962.JD440129 - Sequence 421153 from Patent EP1572962.JD141813 - Sequence 122837 from Patent EP1572962.JD324344 - Sequence 305368 from Patent EP1572962.JD328697 - Sequence 309721 from Patent EP1572962.JD485879 - Sequence 466903 from Patent EP1572962.JD218970 - Sequence 199994 from Patent EP1572962.JD260006 - Sequence 241030 from Patent EP1572962.JD450668 - Sequence 431692 from Patent EP1572962.JD096756 - Sequence 77780 from Patent EP1572962.JD482643 - Sequence 463667 from Patent EP1572962.
Biochemical and Signaling Pathways
BioCarta from NCI Cancer Genome Anatomy Project h_fibrinolysisPathway - Fibrinolysis Pathway
h_plateletAppPathway - Platelet Amyloid Precursor Protein Pathway
Reactome (by CSHL, EBI, and GO) Protein P05121 (Reactome details) participates in the following event(s):R-HSA-158795 fibrin multimer, crosslinked:tissue plasminogen activator (one-chain) + plasminogen activator inhibitor 1 -> fibrin multimer, crosslinked:tissue plasminogen activator (one-chain):plasminogen activator inhibitor 1
R-HSA-158800 fibrin multimer, crosslinked:tissue plasminogen activator (two-chain) + plasminogen activator inhibitor 1 -> fibrin multimer, crosslinked:tissue plasminogen activator (two-chain):plasminogen activator inhibitor 1
R-HSA-159005 urokinase plasminogen activator (two-chain):uPAR + plasminogen activator inhibitor 1 (PAI-1) -> PAI-1:urokinase plasminogen activator (two-chain):uPAR
R-HSA-2396079 VTN binds Plasminogen activator inhibitor- 1
R-HSA-481007 Exocytosis of platelet alpha granule contents
R-HSA-2173796 SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
R-HSA-75205 Dissolution of Fibrin Clot
R-HSA-3000178 ECM proteoglycans
R-HSA-1368108 BMAL1:CLOCK,NPAS2 activates circadian gene expression
R-HSA-2173793 Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer
R-HSA-114608 Platelet degranulation
R-HSA-109582 Hemostasis
R-HSA-1474244 Extracellular matrix organization
R-HSA-400253 Circadian Clock
R-HSA-170834 Signaling by TGF-beta Receptor Complex
R-HSA-212436 Generic Transcription Pathway
R-HSA-76005 Response to elevated platelet cytosolic Ca2+
R-HSA-9006936 Signaling by TGF-beta family members
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-162582 Signal Transduction
R-HSA-74160 Gene expression (Transcription)
Other Names for This Gene
Alternate Gene Symbols: B7Z4S0, ENST00000223095.1, ENST00000223095.2, ENST00000223095.3, ENST00000223095.4, F8WD53, NM_001386466, P05121, PAI1, PAI1_HUMAN, PLANH1, uc317dgn.1, uc317dgn.2UCSC ID: ENST00000223095.5_4RefSeq Accession: NM_000602.5
Protein: P05121
(aka PAI1_HUMAN)
GeneReviews for This Gene
GeneReviews article(s) related to gene SERPINE1:pai-1-def (Complete Plasminogen Activator Inhibitor 1 Deficiency)
Gene Model Information
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for a detailed description of the fields of the table above.
Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.