Gene
SERPINE1
serpin family E member 1
- HGNC 8583↗(opens in a new tab)
- Ensembl gene ENSG00000106366↗(opens in a new tab)
- NCBI Gene 5054↗(opens in a new tab)
Summary
- Cytogenetic location
- 7q22.1
- Coordinates
- Chromosome 7: 101,127,104–101,139,247 (GRCh38)
- Exons
- 9 exons across 12.1 kb
- Protein
- 402 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- PAI
- Previous symbols
- PLANH1, PAI1
- MANE Select transcript
- ENST00000223095.5NM_000602.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
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Inherited Fibrinolytic Disorders
- Plasminogen Activator Inhibitor-1 (PAI-1) DeficiencyAutosomal recessive
Caused by changes in both copies of SERPINE1, clots break down too early, leading to bleeding after injury, surgery or childbirth and heavy periods.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Tranexamic acid, a medicine that slows clot breakdown, is effective in preventing and treating bleeding.
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How SERPINE1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 3.2 kb of the gene's 12.1 kb; 1,209 of those bases code for the protein.
Traits linked to SERPINE1
The Human Phenotype Ontology lists these as features of the rare conditions SERPINE1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of blood and blood-forming tissues
- Decreased circulating plasminogen concentration
- Decreased level of tissue plasminogen activator
- Excessive bleeding after minor trauma
- Prolonged bleeding after surgery
- Reduced alpha-2-antiplasmin activity
- Reduced plasminogen activator inhibitor 1 activity
- Reduced plasminogen activator inhibitor 1 antigen
- Abnormally heavy bleeding during menstruation
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). SERPINE1 gene: serpin family E member 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/serpine1
Dante Labs. SERPINE1 gene: serpin family E member 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/serpine1
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