SERPINA5
Serpin Family A Member 5 (Protein C Inhibitor)
Gene Information Card
| Symbol | SERPINA5 |
|---|---|
| Full Name | Serpin Family A Member 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q32.13 |
| NCBI Gene ID | 5104 ncbi.nlm.nih.gov/gene/5104 |
| Ensembl ID | ENSG00000100884 |
| UniProt ID | P05154 |
| OMIM ID | 601841 |
| HGNC ID | 8983 |
| Aliases | PCI, PROCI, PLANH3, PAI-3 |
Description
SERPINA5 encodes protein C inhibitor (PCI), a serine protease inhibitor belonging to the serpin superfamily. PCI inhibits activated protein C, thrombin, plasminogen activators, and other proteases, playing a key role in regulating coagulation, fibrinolysis, and inflammation. It is expressed in many tissues, including liver, kidney, and reproductive organs, and has been implicated in thrombosis, infertility, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Thrombophilia | Loss of PCI function reduces inhibition of activated protein C, promoting hypercoagulability. | ClinVar, OMIM |
| Male infertility | PCI deficiency in seminal plasma impairs sperm capacitation and motility. | UniProt, PubMed |
| Prostate cancer | Altered SERPINA5 expression affects tumor invasion and metastasis via protease regulation. | COSMIC, PubMed |
| Endometrial cancer | Reduced PCI expression correlates with aggressive tumor phenotype. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 43.2 | High |
| Kidney | 28.5 | Medium |
| Prostate | 22.1 | Medium |
| Testis | 18.7 | Medium |
| Lung | 12.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 35.6 | Hepatocellular carcinoma cell line |
| HEK 293 | 15.2 | Embryonic kidney cells |
| LNCaP | 20.4 | Prostate cancer cell line |
| MCF7 | 8.9 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1073G>A (p.Arg358His) | Missense | Rare | Reduced inhibitory activity toward activated protein C |
| c.1196G>A (p.Arg399Gln) | Missense | Rare | Altered heparin binding and stability |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg358His) reduce protease inhibition, leading to thrombotic risk.
Gain of Function (GOF)
Not well documented; no clear gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects; SERPINA5 acts as a monomer.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase inhibitor activity | • heparin binding |
| • extracellular space | • blood coagulation |
| • negative regulation of fibrinolysis | • negative regulation of angiogenesis |
Pathways
• Intrinsic pathway of fibrin clot formation (Reactome: R-HSA-140837)
• Common pathway of fibrin clot formation (Reactome: R-HSA-140875)
• Protein C anticoagulant pathway (KEGG: hsa04610)
Protein Summary
Protein C inhibitor (PCI) is a 57 kDa glycoprotein secreted primarily by the liver and found in plasma, seminal fluid, and urine. It inhibits activated protein C, thrombin, factor Xa, and urokinase-type plasminogen activator. PCI contains a reactive center loop (RCL) that traps target proteases via a suicide substrate mechanism. Its activity is modulated by heparin and other glycosaminoglycans. Dysregulation of PCI contributes to thrombosis, infertility, and tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SERPINA5 Knockout HEK293 Cell Line | EDJ-KQ5413 | Human | 5104 | Details Get a Quote |
| SERPINA5 Knockout HCT 116 Cell Line | EDJ-KQ27334 | Human | 5104 | Details Get a Quote |
| SERPINA5 Knockout HeLa Cell Line | EDJ-KQ54091 | Human | 5104 | Details Get a Quote |
| SERPINA5 Knockout A-549 Cell Line | EDJ-KQ62579 | Human | 5104 | Details Get a Quote |
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