SERPINA10
Serpin Family A Member 10 (Protein Z-Dependent Protease Inhibitor)
Gene Information Card
| Symbol | SERPINA10 |
|---|---|
| Full Name | Serpin Family A Member 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.13 |
| NCBI Gene ID | 51156 ncbi.nlm.nih.gov/gene/51156 |
| Ensembl ID | ENSG00000100842 |
| UniProt ID | Q9UK55 |
| OMIM ID | 605271 |
| HGNC ID | 17973 |
| Aliases | ZPI, PZ-1, PROZ-dependent protease inhibitor |
Description
SERPINA10 (serpin family A member 10) encodes protein Z-dependent protease inhibitor (ZPI), a serpin that inhibits coagulation factors Xa and XIa in a protein Z-dependent manner. It is primarily expressed in the liver and circulates in plasma. Mutations in SERPINA10 are associated with thrombophilia and bleeding disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Thrombophilia due to SERPINA10 deficiency | Loss-of-function mutations reduce ZPI activity, leading to increased thrombin generation and venous thrombosis | ClinVar, OMIM |
| Bleeding disorder due to SERPINA10 deficiency | Severe deficiency impairs coagulation regulation, causing hemorrhage | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 48.2 | High |
| Pancreas | 1.5 | Low |
| Kidney | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 52.1 | Hepatocellular carcinoma cell line |
| Huh-7 | 45.6 | Hepatoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1246C>T (p.Arg416Cys) | Missense | 0.1% (gnomAD) | Reduced ZPI activity; associated with thrombophilia |
| c.1024G>A (p.Gly342Ser) | Missense | 0.05% | Impaired protein Z binding; increased thrombosis risk |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg416Cys) reduce ZPI inhibitory activity, leading to thrombophilia.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase inhibitor activity | • heparin binding |
| • extracellular space | • blood coagulation |
| • negative regulation of blood coagulation |
Pathways
• Complement and coagulation cascades (KEGG hsa04610)
• Formation of Fibrin Clot (Clotting Cascade) (Reactome R-HSA-140877)
Protein Summary
Protein Z-dependent protease inhibitor (ZPI) is a 72 kDa serpin synthesized in the liver. It inhibits coagulation factors Xa and XIa in the presence of protein Z and phospholipids. ZPI circulates in plasma and is essential for hemostatic balance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SERPINA10 Knockout HEK293 Cell Line | EDJ-KQ10951 | Human | 51156 | Details Get a Quote |
| SERPINA10 Knockout HeLa Cell Line | EDJ-KQ56238 | Human | 51156 | Details Get a Quote |
| SERPINA10 Knockout A-549 Cell Line | EDJ-KQ64728 | Human | 51156 | Details Get a Quote |
| SERPINA10 Knockout HCT 116 Cell Line | EDJ-KQ73173 | Human | 51156 | Details Get a Quote |
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