Gene Gene information from NCBI Gene database.
Entrez ID 5054
Gene name Serpin family E member 1
Gene symbol SERPINE1
Synonyms (NCBI Gene)
PAIPAI-1PAI1PLANH1
Chromosome 7
Chromosome location 7q22.1
Summary 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. The protein also functions as
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs1799762 ->G Pathogenic, other Upstream transcript variant
rs1194865614 ->TA Pathogenic Coding sequence variant, frameshift variant
rs1554362148 ->C Pathogenic Coding sequence variant, frameshift variant
rs1584902091 ACATGAGTTCATCTATTTCCTGCCCACATCTGGTATAAAAGGAGGCAGTGGCCCACAGAGGAGCACAGCTGTGTTTGGCTGCAGGGCCAAGAGCGCTGTCAAGAAGACCCACACGCCCCCCTCCAGCAGCTGAATTCCTGCAGCTCAGCAGCCGCCGCCAGAGCAGGACGAACCGCCAATCGCAAGGCACCTCTGAGAACTTCAGGTAGGAGAAAAGCAAACTCCCTCCAACCTCTTACTTCGGGCTTAAGGCAG Likely-pathogenic 5 prime UTR variant, upstream transcript variant, intron variant, splice donor variant
miRNA miRNA information provided by mirtarbase database.
746
miRTarBase ID miRNA Experiments Reference
MIRT005844 hsa-miR-204-5p Microarray 21282569
MIRT005971 hsa-miR-30c-5p Luciferase reporter assay 21175428
MIRT005971 hsa-miR-30c-5p Luciferase reporter assay 21175428
MIRT005972 hsa-miR-301a-3p Luciferase reporter assay 21175428
MIRT005972 hsa-miR-301a-3p Luciferase reporter assay 21175428
Transcription factors Transcription factors information provided by TRRUST V2 database.
26
Transcription factor Regulation Reference
ARNTL2 Activation 22198637
E2F1 Repression 11402043;11559366
EPAS1 Activation 15039136
ESR1 Activation 15217907
ESR2 Repression 15217907
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
59
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEP 11866539
GO:0002020 Function Protease binding IPI 2503541, 8508955, 8626514, 12114510, 15853774
GO:0004866 Function Endopeptidase inhibitor activity IDA 8626514
GO:0004867 Function Serine-type endopeptidase inhibitor activity IBA
GO:0004867 Function Serine-type endopeptidase inhibitor activity IDA 1695900, 8508955, 21925150
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
173360 8583 ENSG00000106366
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P05121
Protein name Plasminogen activator inhibitor 1 (PAI) (PAI-1) (Endothelial plasminogen activator inhibitor) (Serpin E1)
Protein function Serine protease inhibitor. Inhibits TMPRSS7 (PubMed:15853774). Is a primary inhibitor of tissue-type plasminogen activator (PLAT) and urokinase-type plasminogen activator (PLAU). As PLAT inhibitor, it is required for fibrinolysis down-regulation
PDB 1A7C , 1B3K , 1C5G , 1DB2 , 1DVM , 1DVN , 1LJ5 , 1OC0 , 3CVM , 3EOX , 3PB1 , 3Q02 , 3Q03 , 3R4L , 3UT3 , 4AQH , 4G8O , 4G8R , 4IC0 , 5BRR , 5ZLZ , 6GWN , 6GWP , 6GWQ , 6I8S , 6ZRV , 7AQF , 7AQG , 9PAI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00079 Serpin 33 402 Serpin (serine protease inhibitor) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in endothelial cells (PubMed:2430793, PubMed:3097076). Found in plasma, platelets, and hepatoma and fibrosarcoma cells. {ECO:0000269|PubMed:2430793, ECO:0000269|PubMed:3097076}.
Sequence
Sequence length 402
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
64
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal bleeding Likely pathogenic rs1584902091 RCV000852255
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital plasminogen activator inhibitor type 1 deficiency Pathogenic rs1194865614 RCV000014539
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Transcription level of plasminogen activator inhibitor 1 Pathogenic rs1799762 RCV000014540
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYLOIDOSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acanthosis Nigricans Acanthosis Nigricans BEFREE 16449022
★☆☆☆☆
Found in Text Mining only
Acne Acne BEFREE 28357546
★☆☆☆☆
Found in Text Mining only
Activated Protein C Resistance Activated Protein C Resistance BEFREE 10414451, 11583306, 20161734, 20868443, 21225090, 9255906, 9439545
★☆☆☆☆
Found in Text Mining only
Acute Cerebrovascular Accidents Stroke BEFREE 18662099, 9134651
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 19699511, 27755007, 28321011, 30659821
★☆☆☆☆
Found in Text Mining only
Acute Kidney Tubular Necrosis Renal tubular necrosis BEFREE 8943484
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 18285546, 29350496, 30534565
★☆☆☆☆
Found in Text Mining only
Acute otitis media Otitis media BEFREE 17671042
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 19248219
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 12124797
★☆☆☆☆
Found in Text Mining only