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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]
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 Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer and E2F transcription factor network. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and protease binding. An important paralog of this gene is SERPINE2.
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 | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IDA,TAS | -- |
GO:0005615 | extracellular space | IBA,IDA | 1695900 |
GO:0005886 | plasma membrane | TAS | -- |
GO:0031093 | platelet alpha granule lumen | TAS | -- |
GO:0062023 | collagen-containing extracellular matrix | IDA | 1632457 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Response to elevated platelet cytosolic Ca2+ |
.44
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2 | Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer | ||
3 | Folate Metabolism | ||
4 | Complement and coagulation cascades | ||
5 | Formation of Fibrin Clot (Clotting Cascade) |
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 | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Urokinase | Approved, Investigational, Withdrawn | Pharma | Target, substrate, inducer, activator | 0 | ||
Dexamethasone | Approved, Investigational, Vet_approved | Pharma | Agonist | Anti-inflammatory glucocorticoid | 2886 | |
Troglitazone | Approved, Investigational, Withdrawn | Pharma | Agonist, Full agonist, Channel blocker, Target, antagonist | Selective PPARγ agonist, Selective PPARgamma agonist; antidiabetic agent | 8 | |
Atorvastatin | Approved | Pharma | Inhibitor, Competitive | 893 | ||
Simvastatin | Approved | Pharma | Inhibitor, Competitive | HMG-CoA reductase inhibitor | 582 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | ||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SERPINE1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SERPINE1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PAI-1 31 |
|
OneToOne | |
SERPINE1 30 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | Serpine1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Serpine1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SERPINE1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SERPINE1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | serpine1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.25094 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | serpine1 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | SRPN1 30 |
|
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
627494 | Likely Pathogenic: Abnormal bleeding | 101,127,037(+) | GGAACATGAGTTCATC | ||
717078 | Benign/Likely Benign: Congenital plasminogen activator inhibitor type 1 deficiency; not provided | 101,130,506(+) | G/A | SYNONYMOUS_VARIANT | |
740992 | Likely Benign: not provided | 101,133,810(+) | C/A | SYNONYMOUS_VARIANT | |
768189 | Benign: not provided | 101,132,017(+) | C/T | SYNONYMOUS_VARIANT | |
771414 | Benign/Likely Benign: Congenital plasminogen activator inhibitor type 1 deficiency; not provided | 101,136,992(+) | C/T | INTRON_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
plasminogen activator inhibitor-1 deficiency |
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|
hepatic veno-occlusive disease |
|
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fibrosarcoma |
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thrombophilia |
|
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disseminated intravascular coagulation |
|