Endometriosis Knowledgebase

Search Result

Gene id

5054

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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, plasminogen ac,

Gene location

7q22.1 (101127086: 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 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]

OMIM

173360

SNPs

rs1799762

Strand:    Allele origin:   Allele change: -/G   Mutation type: in-del

CM000669.2   g.101126426_101126427insG
NC_000007.13   g.100769707_100769708insG
NC_000007.14   g.101126426_101126427insG
NG_013213.1   g.4329_4330insG
NM_000602.4   c.-820_-819insG
rs1799768

Strand:    Allele origin:   Allele change: -/A/C/G   Mutation type: in-del

CM000669.2   g.101126425_101126426insA
CM000669.2   g.101126425_101126426insC
CM000669.2   g.101126425_101126426insG
NC_000007.13   g.100769706_100769707insG
NC_000007.14   g.101126425_101126426insA
NC_000007.14   g.101126425_101126426insC
NC_000007.14   g.101126425_101126426insG
NG_013213.1   g.4328_4329insA
NG_013213.1   g.4328_4329insC
NG_013213.1   g.4328_4329insG
NM_000602.4   c.-821_-820insA
NM_000602.4   c.-821_-820insC
NM_000602.4   c.-821_-820insG
rs1799889

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000669.2   g.101126430A>G
NC_000007.13   g.100769711A>G
NC_000007.14   g.101126430A>G
NG_013213.1   g.4333A>G
NM_000602.4   c.-816A>G

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

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

Sequence

MQMSPALTCLVLGLALVFGEGSAVHHPPSYVAHLASDFGVRVFQQVAQASKDRNVVFSPYGVASVLAMLQLTTGG
ETQQQIQAAMGFKIDDKGMAPALRHLYKELMGPWNKDEISTTDAIFVQRDLKLVQGFMPHFFRLFRSTVKQVDFS
EVERARFIINDWVKTHTKGMISNLLGKGAVDQLTRLVLVNALYFNGQWKTPFPDSSTHRRLFHKSDGSTVSVPMM
AQTNKFNYTEFTTPDGHYYDILELPYHGDTLSMFIAAPYEKEVPLSALTNILSAQLISHWKGNMTRLPRLLVLPK
FSLETEVDLRKPLENLGMTDMFRQFQADFTSLSDQEPLHVAQALQKVKIEVNESGTVASSSTAVIVSARMAPEEI
IMDRPFLFVVRHNPTGTVLFMGQVMEP

Structural information

Interpro:	IPR023795 IPR023796 IPR000215
Prosite:	PS00284
Pfam:	PF00079
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
MINT:	202409
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 ac tivity	IDA	biological_process
GO:0010757	negative regulation of pl asminogen activation	IMP	biological_process
GO:0010757	negative regulation of pl asminogen activation	IMP	biological_process
GO:0010757	negative regulation of pl asminogen activation	IDA	biological_process
GO:0010951	negative regulation of en dopeptidase activity	IDA	biological_process
GO:0014912	negative regulation of sm ooth muscle cell migratio n	IDA	biological_process
GO:0030194	positive regulation of bl ood coagulation	IMP	biological_process
GO:0030195	negative regulation of bl ood coagulation	IC	biological_process
GO:0030198	extracellular matrix orga nization	TAS	biological_process
GO:0030336	negative regulation of ce ll migration	IDA	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0031093	platelet alpha granule lu men	TAS	cellular_component
GO:0032757	positive regulation of in terleukin-8 production	IMP	biological_process
GO:0033629	negative regulation of ce ll adhesion mediated by i ntegrin	IDA	biological_process
GO:0035491	positive regulation of le ukotriene production invo lved in inflammatory resp onse	IMP	biological_process
GO:0042730	fibrinolysis	TAS	biological_process
GO:0045766	positive regulation of an giogenesis	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	TAS	biological_process
GO:0048260	positive regulation of re ceptor-mediated endocytos is	IDA	biological_process
GO:0050729	positive regulation of in flammatory response	IGI	biological_process
GO:0050829	defense response to Gram- negative bacterium	IGI	biological_process
GO:0051918	negative regulation of fi brinolysis	IDA	biological_process
GO:0061044	negative regulation of va scular wound healing	IGI	biological_process
GO:0061045	negative regulation of wo und healing	IC	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071222	cellular response to lipo polysaccharide	IMP	biological_process
GO:0090026	positive regulation of mo nocyte chemotaxis	IMP	biological_process
GO:1902042	negative regulation of ex trinsic apoptotic signali ng pathway via death doma in receptors	IMP	biological_process
GO:2000098	negative regulation of sm ooth muscle cell-matrix a dhesion	IDA	biological_process
GO:2000352	negative regulation of en dothelial 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 pe ptidase activity	IEA	biological_process
GO:0010469	regulation of receptor ac tivity	IDA	biological_process
GO:0010757	negative regulation of pl asminogen activation	IMP	biological_process
GO:0010757	negative regulation of pl asminogen activation	IMP	biological_process
GO:0010757	negative regulation of pl asminogen activation	IDA	biological_process
GO:0010951	negative regulation of en dopeptidase activity	IDA	biological_process
GO:0014912	negative regulation of sm ooth muscle cell migratio n	IDA	biological_process
GO:0030194	positive regulation of bl ood coagulation	IMP	biological_process
GO:0030195	negative regulation of bl ood coagulation	IC	biological_process
GO:0030198	extracellular matrix orga nization	TAS	biological_process
GO:0030336	negative regulation of ce ll migration	IDA	biological_process
GO:0030414	peptidase inhibitor activ ity	IEA	molecular_function
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0031093	platelet alpha granule lu men	TAS	cellular_component
GO:0032757	positive regulation of in terleukin-8 production	IMP	biological_process
GO:0033629	negative regulation of ce ll adhesion mediated by i ntegrin	IDA	biological_process
GO:0035491	positive regulation of le ukotriene production invo lved in inflammatory resp onse	IMP	biological_process
GO:0042730	fibrinolysis	TAS	biological_process
GO:0045766	positive regulation of an giogenesis	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	TAS	biological_process
GO:0048260	positive regulation of re ceptor-mediated endocytos is	IDA	biological_process
GO:0050729	positive regulation of in flammatory response	IGI	biological_process
GO:0050829	defense response to Gram- negative bacterium	IGI	biological_process
GO:0051918	negative regulation of fi brinolysis	IDA	biological_process
GO:0061044	negative regulation of va scular wound healing	IGI	biological_process
GO:0061045	negative regulation of wo und healing	IC	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071222	cellular response to lipo polysaccharide	IMP	biological_process
GO:0090026	positive regulation of mo nocyte chemotaxis	IMP	biological_process
GO:1902042	negative regulation of ex trinsic apoptotic signali ng pathway via death doma in receptors	IMP	biological_process
GO:2000098	negative regulation of sm ooth muscle cell-matrix a dhesion	IDA	biological_process
GO:2000352	negative regulation of en dothelial 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 ac tivity	IDA	biological_process
GO:0010757	negative regulation of pl asminogen activation	IMP	biological_process
GO:0010757	negative regulation of pl asminogen activation	IMP	biological_process
GO:0010757	negative regulation of pl asminogen activation	IDA	biological_process
GO:0010951	negative regulation of en dopeptidase activity	IDA	biological_process
GO:0014912	negative regulation of sm ooth muscle cell migratio n	IDA	biological_process
GO:0030194	positive regulation of bl ood coagulation	IMP	biological_process
GO:0030195	negative regulation of bl ood coagulation	IC	biological_process
GO:0030198	extracellular matrix orga nization	TAS	biological_process
GO:0030336	negative regulation of ce ll migration	IDA	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0031093	platelet alpha granule lu men	TAS	cellular_component
GO:0032757	positive regulation of in terleukin-8 production	IMP	biological_process
GO:0033629	negative regulation of ce ll adhesion mediated by i ntegrin	IDA	biological_process
GO:0035491	positive regulation of le ukotriene production invo lved in inflammatory resp onse	IMP	biological_process
GO:0042730	fibrinolysis	TAS	biological_process
GO:0045766	positive regulation of an giogenesis	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	TAS	biological_process
GO:0048260	positive regulation of re ceptor-mediated endocytos is	IDA	biological_process
GO:0050729	positive regulation of in flammatory response	IGI	biological_process
GO:0050829	defense response to Gram- negative bacterium	IGI	biological_process
GO:0051918	negative regulation of fi brinolysis	IDA	biological_process
GO:0061044	negative regulation of va scular wound healing	IGI	biological_process
GO:0061045	negative regulation of wo und healing	IC	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071222	cellular response to lipo polysaccharide	IMP	biological_process
GO:0090026	positive regulation of mo nocyte chemotaxis	IMP	biological_process
GO:1902042	negative regulation of ex trinsic apoptotic signali ng pathway via death doma in receptors	IMP	biological_process
GO:2000098	negative regulation of sm ooth muscle cell-matrix a dhesion	IDA	biological_process
GO:2000352	negative regulation of en dothelial cell apoptotic process	IMP	biological_process

KEGG pathways

hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa05142  Chagas disease
hsa04390  Hippo signaling pathway
hsa04066  HIF-1 signaling pathway
hsa04371  Apelin signaling pathway
hsa04610  Complement and coagulation cascades
hsa04115  p53 signaling pathway

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 16828203
Amyloidosis	PMID: 19033264
Amyotrophic lateral sclerosis (ALS)	PMID: 18513389
Antiphospholipid syndrome	PMID: 11454529
Asthma	PMID: 11972486
Avascular necrosis	KEGG: H01529
Azoospermia	PMID: 1908531
Behcet's disease	PMID: 18341631
Cerebral infarct	PMID: 12859287
Cerebral palsy	PMID: 19238444
Cerebral palsy	PMID: 18977990
Cerebrovascular disease	PMID: 12871600
Chronic kidney failure	PMID: 19578796
Chronic obstructive pulmonary disease (COPD)	PMID: 15820782
Coagulopathy	PMID: 17513622
Colitis	PMID: 18524690
Crohn's disease	PMID: 12694086
Dementia	PMID: 16603315
Depression	PMID: 18794724
Diabetic nephropathy	PMID: 17263760
Diabetic retinopathy	PMID: 16416371
Encephalopathy	PMID: 16508752
Endometrial hypoplasia	PMID: 18683152
Endometriosis	PMID: 16816071
Female infertility	PMID: 27223647
Fetal loss	PMID: 19909951
Glaucoma	PMID: 18615155
Glomerulonephritis	PMID: 19420105
Glucocorticoid-induced osteonecrosis	KEGG: H01709
Hearing loss	PMID: 15109703
Hemolytic uremic syndrome	PMID: 19110485
Hemophilia A	PMID: 18459951
Hypertension	PMID: 16496609
Implantation failure	PMID: 18829023
Inflammatory bowel disease	PMID: 17111197
Insulin resistance	PMID: 11849662
Limb deficiency defects	PMID: 17036337
Lupus nephritis	PMID: 11260416
Metabolic syndrome	PMID: 17467713
Female infertility	INFBASE21306344
Endometriosis	INFBASE9806560
Nephropathy	PMID: 15321757
Obesity	PMID: 11522017
Obstructive sleep apnea syndrome	PMID: 11908512
Oligoasthenoteratozoospermia	PMID: 1908531
Osteonecrosis	PMID: 14742985
Osteoporosis	PMID: 17201588
Pancreatitis	PMID: 19248219
Periodontitis	PMID: 12140748
Polycystic ovary syndrome (PCOS)	PMID: 23898913
Polycystic ovary syndrome (PCOS)	PMID: 19387820
Precocious puberty	PMID: 17555513
Preeclampsia	PMID: 15120696
Primary ovarian insufficiency (POI)	PMID: 24355042
Recurrent implantation failure (RIF)	PMID: 18829023
Recurrent miscarriage	PMID: 22047507
Retinal vascular occlusion	PMID: 15213845
Rheumatoid arthritis	PMID: 16356191
Secondary infertility	PMID: 23234018
Systemic lupus erythematosus	PMID: 25675617
Systemic lupus erythematosus	PMID: 11260416
Thrombophilia	PMID: 19799197

PubMed references

PMID	Condition	Mutation	Population details	Infertility_type	Associated_genes	Abstract
21306344	Endometrio sis	4G/5G polymorphism of the PAI-1 gene	352 (140 infert ile women with endometriosis, 64 women with i diopathic infer tility and 148 fertile women a s control subje cts)	Female infertility		Show abstract
16816071	Endometrio sis	4G/5G, 4G/4G, 5G/5G PAI-1	118 (75 with la paroscopically confirmed endom etriosis, 43 co ntrols)			Show abstract
18423526	Endometrio sis	PAI-14G/5G polymorphism,	389 women (170 patients with e ndometriosis an d 219 controls)			Show abstract
15579491	Endometrio sis		89 (57 women wi th endometriosi s, 32 controls)			Show abstract
14981142	Endometrio sis				uPA PAI-1 uPAR	Show abstract
12832381	Endometrio sis		74 (39 women wi th endometriosi s, 35 controls)		uPA PAI-1 MMP-3 TIMP-1	Show abstract
9806560	Endometrio sis				u-PA PAI-1 PAI-2	Show abstract