SERPINC1
Serpin Family C Member 1 (Antithrombin III)
Gene Information Card
| Symbol | SERPINC1 |
|---|---|
| Full Name | Serpin Family C Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q25.1 |
| NCBI Gene ID | 462 ncbi.nlm.nih.gov/gene/462 |
| Ensembl ID | ENSG00000117601 |
| UniProt ID | P01008 |
| OMIM ID | 107300 |
| HGNC ID | 1546 |
| Aliases | AT3, ATIII, AT-III, AT-3, SERPINC1 |
Description
SERPINC1 (serpin family C member 1) encodes antithrombin III (ATIII), a 58 kDa glycoprotein and member of the serpin superfamily. ATIII is the primary physiological inhibitor of thrombin and activated factor X (FXa), and also inhibits factors IXa, XIa, XIIa, and plasmin. Its anticoagulant activity is greatly enhanced by heparin. Loss-of-function mutations in SERPINC1 cause hereditary antithrombin deficiency (OMIM 107300), a major risk factor for venous thromboembolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary antithrombin deficiency (type I) | Quantitative deficiency due to loss-of-function mutations leading to reduced ATIII antigen and activity | OMIM 107300; ClinVar |
| Hereditary antithrombin deficiency (type II) | Qualitative defect with normal antigen but reduced activity, often affecting heparin-binding or reactive site | OMIM 107300; ClinVar |
| Venous thromboembolism | Reduced ATIII activity shifts hemostatic balance toward thrombosis | Multiple studies; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 58.2 | High |
| Plasma | N/A | High (secreted) |
| Kidney | 1.2 | Low |
| Heart | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 62.5 | Hepatocyte cell line |
| HUVEC | 0.3 | Endothelial cells (low) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1246C>T (p.Arg416Cys) | Missense | 0.01% | Reduced heparin affinity (type II HBS) |
| c.1154G>A (p.Arg385His) | Missense | 0.005% | Reactive site loop dysfunction (type II RS) |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of translation (type I) |
Mutation functional classification
Loss of Function (LOF)
Most SERPINC1 mutations cause loss of function, reducing ATIII activity and predisposing to thrombosis.
Gain of Function (GOF)
Not described.
Dominant Negative (DN)
Not described; inheritance is autosomal dominant with haploinsufficiency.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004867 (GO:0004867) | • GO:0002020 (GO:0002020) |
| • GO:0007596 (GO:0007596) | • GO:0030194 (GO:0030194) |
| • GO:0005615 (GO:0005615) |
Pathways
• Coagulation cascade (KEGG hsa04610)
• Complement and coagulation cascades (Reactome R-HSA-140877)
Protein Summary
Antithrombin III (ATIII) is a 432-amino-acid glycoprotein synthesized primarily in the liver and secreted into plasma. It contains three disulfide bonds and a reactive center loop (RCL) that traps target proteases. Heparin binding induces a conformational change that accelerates inhibition of thrombin and FXa by ~1000-fold. ATIII also has anti-inflammatory properties.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SERPINC1 Knockout HEK293 Cell Line | EDJ-KQ3533 | Human | 462 | Details Get a Quote |
| SERPINC1 Knockout HeLa Cell Line | EDJ-KQ52676 | Human | 462 | Details Get a Quote |
| SERPINC1 Knockout A-549 Cell Line | EDJ-KQ61148 | Human | 462 | Details Get a Quote |
| SERPINC1 Knockout HCT 116 Cell Line | EDJ-KQ69636 | Human | 462 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
