• Gene id: 5054

Gene Summary

• Gene Symbol: SERPINE1   Gene   UCSC   Ensembl
• Aliases: PAI, PAI-1, PAI1, PLANH1
• Gene name: serpin family E member 1
• Alternate names: plasminogen activator inhibitor 1, 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, plasminoge,
• Gene location: 7q22.1 (101127088: 101139265)     Exons: 9     NC_000007.14
• Gene summary(Entrez): 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 c
• OMIM: 173360

Protein Summary

• Protein general information: P05121  
  • Name: Plasminogen activator inhibitor 1 (PAI) (PAI 1) (Endothelial plasminogen activator inhibitor) (Serpin E1)
  • Length: 402  
  • Mass: 45,060
• Sequence:

  MQMSPALTCLVLGLALVFGEGSAVHHPPSYVAHLASDFGVRVFQQVAQASKDRNVVFSPYGVASVLAMLQLTTGG
  ETQQQIQAAMGFKIDDKGMAPALRHLYKELMGPWNKDEISTTDAIFVQRDLKLVQGFMPHFFRLFRSTVKQVDFS
  EVERARFIINDWVKTHTKGMISNLLGKGAVDQLTRLVLVNALYFNGQWKTPFPDSSTHRRLFHKSDGSTVSVPMM
  AQTNKFNYTEFTTPDGHYYDILELPYHGDTLSMFIAAPYEKEVPLSALTNILSAQLISHWKGNMTRLPRLLVLPK
  FSLETEVDLRKPLENLGMTDMFRQFQADFTSLSDQEPLHVAQALQKVKIEVNESGTVASSSTAVIVSARMAPEEI
  IMDRPFLFVVRHNPTGTVLFMGQVMEP

• Structural information:
  • Interpro: IPR023795  IPR023796  IPR000215  IPR036186  
  • Prosite: PS00284
  • PDB: 1A7C 1B3K 1C5G 1DB2 1DVM 1DVN 1LJ5 1OC0 3CVM 3EOX 3PB1 3Q02 3Q03 3R4L 3UT3 4AQH 4G8O 4G8R 4IC0 5BRR 9PAI
  • PDBsum: 1A7C 1B3K 1C5G 1DB2 1DVM 1DVN 1LJ5 1OC0 3CVM 3EOX 3PB1 3Q02 3Q03 3R4L 3UT3 4AQH 4G8O 4G8R 4IC0 5BRR 9PAI
  • STRING: ENSP00000223095
• Other Databases: GeneCards:  SERPINE1  Malacards:  SERPINE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001300	chronological cell aging	IEP	biological process
GO:0001525	angiogenesis	IEP	biological process
GO:0002020	protease binding	IPI	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0002576	platelet degranulation	TAS	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	IDA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	IDA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular function
GO:0005102	receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IDA	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007623	circadian rhythm	TAS	biological process
GO:0010469	regulation of receptor activity	IDA	biological process
GO:0010757	negative regulation of plasminogen activation	IMP	biological process
GO:0010757	negative regulation of plasminogen activation	IMP	biological process
GO:0010757	negative regulation of plasminogen activation	IDA	biological process
GO:0010951	negative regulation of endopeptidase activity	IDA	biological process
GO:0014912	negative regulation of smooth muscle cell migration	IDA	biological process
GO:0030194	positive regulation of blood coagulation	IMP	biological process
GO:0030195	negative regulation of blood coagulation	IC	biological process
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0030336	negative regulation of cell migration	IDA	biological process
GO:0031012	extracellular matrix	IDA	cellular component
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0032757	positive regulation of interleukin-8 production	IMP	biological process
GO:0033629	negative regulation of cell adhesion mediated by integrin	IDA	biological process
GO:0035491	positive regulation of leukotriene production involved in inflammatory response	IMP	biological process
GO:0042730	fibrinolysis	TAS	biological process
GO:0045766	positive regulation of angiogenesis	IMP	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	TAS	biological process
GO:0048260	positive regulation of receptor-mediated endocytosis	IDA	biological process
GO:0050729	positive regulation of inflammatory response	IGI	biological process
GO:0050829	defense response to Gram-negative bacterium	IGI	biological process
GO:0051918	negative regulation of fibrinolysis	IDA	biological process
GO:0061044	negative regulation of vascular wound healing	IGI	biological process
GO:0061045	negative regulation of wound healing	IC	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071222	cellular response to lipopolysaccharide	IMP	biological process
GO:0090026	positive regulation of monocyte chemotaxis	IMP	biological process
GO:1902042	negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	IMP	biological process
GO:2000098	negative regulation of smooth muscle cell-matrix adhesion	IDA	biological process
GO:2000352	negative regulation of endothelial cell apoptotic process	IMP	biological process
GO:0001300	chronological cell aging	IEP	biological process
GO:0001525	angiogenesis	IEP	biological process
GO:0002020	protease binding	IPI	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0002576	platelet degranulation	TAS	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	IDA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	IDA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular function
GO:0005102	receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IDA	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007623	circadian rhythm	TAS	biological process
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0010469	regulation of receptor activity	IDA	biological process
GO:0010757	negative regulation of plasminogen activation	IMP	biological process
GO:0010757	negative regulation of plasminogen activation	IMP	biological process
GO:0010757	negative regulation of plasminogen activation	IDA	biological process
GO:0010951	negative regulation of endopeptidase activity	IDA	biological process
GO:0014912	negative regulation of smooth muscle cell migration	IDA	biological process
GO:0030194	positive regulation of blood coagulation	IMP	biological process
GO:0030195	negative regulation of blood coagulation	IC	biological process
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0030336	negative regulation of cell migration	IDA	biological process
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0031012	extracellular matrix	IDA	cellular component
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0032757	positive regulation of interleukin-8 production	IMP	biological process
GO:0033629	negative regulation of cell adhesion mediated by integrin	IDA	biological process
GO:0035491	positive regulation of leukotriene production involved in inflammatory response	IMP	biological process
GO:0042730	fibrinolysis	TAS	biological process
GO:0045766	positive regulation of angiogenesis	IMP	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	TAS	biological process
GO:0048260	positive regulation of receptor-mediated endocytosis	IDA	biological process
GO:0050729	positive regulation of inflammatory response	IGI	biological process
GO:0050829	defense response to Gram-negative bacterium	IGI	biological process
GO:0051918	negative regulation of fibrinolysis	IDA	biological process
GO:0061044	negative regulation of vascular wound healing	IGI	biological process
GO:0061045	negative regulation of wound healing	IC	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071222	cellular response to lipopolysaccharide	IMP	biological process
GO:0090026	positive regulation of monocyte chemotaxis	IMP	biological process
GO:1902042	negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	IMP	biological process
GO:2000098	negative regulation of smooth muscle cell-matrix adhesion	IDA	biological process
GO:2000352	negative regulation of endothelial cell apoptotic process	IMP	biological process
GO:0001300	chronological cell aging	IEP	biological process
GO:0001525	angiogenesis	IEP	biological process
GO:0002020	protease binding	IPI	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0002576	platelet degranulation	TAS	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	IDA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	IDA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular function
GO:0005102	receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IDA	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007623	circadian rhythm	TAS	biological process
GO:0010469	regulation of receptor activity	IDA	biological process
GO:0010757	negative regulation of plasminogen activation	IMP	biological process
GO:0010757	negative regulation of plasminogen activation	IMP	biological process
GO:0010757	negative regulation of plasminogen activation	IDA	biological process
GO:0010951	negative regulation of endopeptidase activity	IDA	biological process
GO:0014912	negative regulation of smooth muscle cell migration	IDA	biological process
GO:0030194	positive regulation of blood coagulation	IMP	biological process
GO:0030195	negative regulation of blood coagulation	IC	biological process
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0030336	negative regulation of cell migration	IDA	biological process
GO:0031012	extracellular matrix	IDA	cellular component
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0032757	positive regulation of interleukin-8 production	IMP	biological process
GO:0033629	negative regulation of cell adhesion mediated by integrin	IDA	biological process
GO:0035491	positive regulation of leukotriene production involved in inflammatory response	IMP	biological process
GO:0042730	fibrinolysis	TAS	biological process
GO:0045766	positive regulation of angiogenesis	IMP	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	TAS	biological process
GO:0048260	positive regulation of receptor-mediated endocytosis	IDA	biological process
GO:0050729	positive regulation of inflammatory response	IGI	biological process
GO:0050829	defense response to Gram-negative bacterium	IGI	biological process
GO:0051918	negative regulation of fibrinolysis	IDA	biological process
GO:0061044	negative regulation of vascular wound healing	IGI	biological process
GO:0061045	negative regulation of wound healing	IC	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071222	cellular response to lipopolysaccharide	IMP	biological process
GO:0090026	positive regulation of monocyte chemotaxis	IMP	biological process
GO:1902042	negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	IMP	biological process
GO:2000098	negative regulation of smooth muscle cell-matrix adhesion	IDA	biological process
GO:2000352	negative regulation of endothelial cell apoptotic process	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04066	HIF-1 signaling pathway
hsa04115	p53 signaling pathway
hsa04218	Cellular senescence
hsa04610	Complement and coagulation cascades
hsa04933	AGE-RAGE signaling pathway in diabetic complications
hsa05142	Chagas disease

Diseases

Associated diseases	References
Cancer (colorectal)	GAD: 12833173
Cancer (glaucoma)	GAD: 18615155
Cancer (Hepatocellular)	GAD: 18618228
Cancer (lung)	GAD: 15234427
Cancer (meningeal)	GAD: 20406964
Cancer (oral)	GAD: 16730474
Cancer (ovarian)	GAD: 20628624
Cancer (prostate)	GAD: 16172807
Cancer (stomach)	GAD: 20549826
Cancer (breast)	GAD: 15907980
Cancer (breast)	GAD: 10961693
Aneurysm	GAD: 12027469
Angina pectoris	GAD: 17719307
Aortic aneurysm	GAD: 16082623
Apoplexy	GAD: 18662099
Arterial disease	GAD: 16228848
Atherosclerosis	GAD: 12446192
Atrial fibrillation	GAD: 20082208
Brain ischemia	GAD: 18511872
Hypertension	GAD: 14592559
Budd-Chiari syndrome	GAD: 17100732
Cardiovascular disease	GAD: 11975906
Carotid artery diseases	GAD: 20066125
Cerebral infarction	GAD: 12859287
Cerebrovascular disease	GAD: 12871600
Cardiovascular disease	GAD: 8571307
Restenosis	GAD: 12082592
Thromboembolism	GAD: 11738073
Thrombosis	GAD: 12353306
Vascular disease	GAD: 15105509
Venous insufficiency	GAD: 20926026
Venous thrombosis	GAD: 20128871
Intrauterine growth retardation	GAD: 15824541
Limb deficiency defects	GAD: 17036337
Bronchopulmonary dysplasia	GAD: 20818980
Gastric ulcer	GAD: 12589088
Diabetic nephropathy	GAD: 17263760
Glaucoma	GAD: 18615155
Retinopathy	GAD: 12724690
Retinopathy	GAD: 12660488
Anemia	GAD: 20425806
Hemophilia	GAD: 18459951
Thrombophilia	GAD: 19799197
Thrombophilia	KEGG: H00223
Coagulopathy	GAD: 17513622
Hemolytic uremic syndrome	GAD: 19110485
Antiphospholipid syndrome	GAD: 11454529
Asthma	GAD: 11972486
Behcet's disease	GAD: 18341631
Behcet's disease	GAD: 18341631
Inflammatory bowel disease	GAD: 17111197
Rheumatoid arthritis	GAD: 19238514
Asthma	GAD: 11496236
Ulcerative colitis	GAD: 18524690
Multiple sclerosis	GAD: 17986506
Rheumatoid arthritis	GAD: 16356191
Periodontitis	GAD: 12140748
Systemic lupus erythematosus (SLE)	GAD: 11260416
Systemic lupus erythematosus (SLE)	GAD: 25675617
Crohn's disease	GAD: 12694086
Amyloidosis	GAD: 19033264
Insulin resistance	GAD: 11849662
Hypercholesterolemia	GAD: 20602615
Metabolic syndrome	GAD: 17467713
Obesity	GAD: 11522017
Diabetes	GAD: 15575342
Dyslipidemias	GAD: 16496609
Dyslipidemias	GAD: 16130596
Bone diseases	GAD: 17100549
Osteonecrosis	GAD: 14742985
Migraine disorder	GAD: 19559392
Stroke	GAD: 15096570
Alzheimer's disease	GAD: 16828203
Amyotrophic lateral sclerosis (ALS)	GAD: 18513389
Cerebral palsy	GAD: 18977990
Hearing Loss	GAD: 15109703
Autism	GAD: 11525425
Psychological disorders	GAD: 16603315
Dementia	GAD: 16603315
Depression	GAD: 18794724
Kidney diseases	GAD: 15659127
Chronic renal failure	GAD: 21085059
Chronic kidney failure	GAD: 19578796
Abortion	GAD: 20134171
Female infertility	GAD: 18930220
Female infertility	GAD: 18930220
Insulin precocious puberty	GAD: 17555513
Polycystic ovary syndrome (PCOS)	GAD: 16202290
Precocious puberty	GAD: 17555513
Placenta diseases	GAD: 20447686
Preeclampsia	GAD: 15120696
Recurrent pregnancy loss (RPL)	GAD: 15886801
Recurrent pregnancy loss (RPL)	GAD: 19906129
Recurrent pregnancy loss (RPL)	GAD: 19821806
Premature ovarian insufficiency (POI)	INFBASE: 24355042
Secondary infertility	INFBASE: 23234018
Recurrent implantation failure (RIF)	INFBASE: 18829023
Precocious puberty	INFBASE: 17555513
Polycystic ovary syndrome (PCOS)	INFBASE: 21824047
Implantation failure	INFBASE: 24189965
Miscarriage	INFBASE: 10599993
Polycystic ovary syndrome (PCOS)	INFBASE: 19387820
Recurrent pregnancy loss (RPL)	INFBASE: 24189965
Recurrent pregnancy loss (RPL)	INFBASE: 22882325
Spontaneous abortion	INFBASE: 19636212
Oligoasthenoteratozoospermia	MIK: 1908531
Chorioamnionitis	GAD: 20452482
Endometriosis	GAD: 16816071
Azoospermia	MIK: 1908531
Embryo implantation	INFBASE: 25395746
Endometrial hypoplasia	INFBASE: 18683152
Endometriosis	INFBASE: 19608328
Endometriosis-associated infertility	INFBASE: 21306344
Female infertility	INFBASE: 27223647
Fertilizing defects	INFBASE: 17123524
Implantation failure	INFBASE: 18829023
Pulmonary embolism	GAD: 18160588
Pulmonary thromboembolism	GAD: 16796899
Chronic obstructive pulmonary disease (COPD)	GAD: 15820782
Wegener granulomatosis	GAD: 20827781
Obstructive sleep apnea	GAD: 11908512
Connective tissue diseases	GAD: 19527514
Acute lung injury	GAD: 18804848
Alpha 1-antitrypsin deficiency	GAD: 17972336
Avascular osteonecrosis	GAD: 12438962
Fetal loss thrombophilia	GAD: 19909951
Retinal vascular occlusion	GAD: 15213845
Avascular necrosis of femoral head	KEGG: H01529
Glucocorticoid-induced osteonecrosis	KEGG: H01709
Plasminogen activator inhibitor-1 deficiency	OMIM: 173360
Encephalopathy	GAD: 16508752
Nephritis	GAD: 11836675
Nephropathy	GAD: 15321757
Lupus nephritis	GAD: 17469143
Albuminuria	GAD: 16416371
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia	MIK: 1908531
Oligoasthenoteratozoospermia (OAT-syndrome)	MIK: 1908531
Recurrent pregnancy loss	MIK: 22047507
Polycystic ovary syndrome (PCOS)	MIK: 22882325
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22882325	Recurrent pregnancy loss, PCOS	MTHFR A1298C and PAI-1 4G/5G		277 (177 RPL (38 women with PCOS (RPL-PCOS), 33 with ovarian PCO (RPL-ovarian PCO), 106 without PCOS (RPL)), 100 controls)	Male infertility	MTHFR PAI-1
22047507	Recurrent pregnancy loss	FVL, factor V H1299R, factor II prothrombin G20210A, FXIII V34L, ?-fibrinogen -455G>A, plasminogen activator inhibitor-1 (PAI-1), GPIIIa L33P (HPA-1 a/b L33P), methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, ACE I/D, Apo B R3500Q, and Apo	Turkish	976 (870 individuals with RPL (543 Turkish women with RPL, 327 of their male partners), 106 fertile couples (control))	Male infertility, Female infertility	VL-FVR2 ApoE2 PAI-1  MTHFR C677T-A1298C ACE
1908531	Azoospermia, oligoasthenoteratozoospermia (OAT-syndrome)			67 (15 patients showed normozoospermia, 11 azoospermia, 41 oligoasthenoteratozoospermia (OAT-syndrome))	Male infertility	u-PA t-PA PAI
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R