Basic Information
MANE select
Transcripts
| ID | Sequence | Length | GC content |
|---|---|---|---|
| AGUUUUCAGGCGGAUUGCCUCAGAUCACACUAUCUCCACUUGCCCAGCC… | 1552 nt | 0.4884 | |
| AGUUUUCAGGCGGAUUGCCUCAGAUCACACUAUCUCCACUUGCCCAGCC… | 1721 nt | 0.4887 | |
| AGUUUUCAGGCGGAUUGCCUCAGAUCACACUAUCUCCACUUGCCCAGCC… | 1675 nt | 0.4913 | |
| AGUUUUCAGGCGGAUUGCCUCAGAUCACACUAUCUCCACUUGCCCAGCC… | 1633 nt | 0.4942 | |
| AGUUUUCAGGCGGAUUGCCUCAGAUCACACUAUCUCCACUUGCCCAGCC… | 1531 nt | 0.4905 | |
| AGUUUUCAGGCGGAUUGCCUCAGAUCACACUAUCUCCACUUGCCCAGCC… | 1495 nt | 0.4883 | |
| AGUUUUCAGGCGGAUUGCCUCAGAUCACACUAUCUCCACUUGCCCAGCC… | 1336 nt | 0.4963 |
Summary
The protein encoded by this gene, antithrombin III, is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. Numerous mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency which constitutes a strong risk factor for thrombosis. A reduction in the serum level of this protein is associated with severe cases of Coronavirus Disease 19 (COVID-19). [provided by RefSeq, Sep 2020]
Forensic Context
A study in human blood plasma demonstrated that the SERPINC1 (antithrombin-III) was significantly downregulated with age and was used as a protein biomarker for chronological age prediction [Salignon et al. DOI:10.18632/aging.204787]. A study in septic patients identified the SERPINC1 as downregulated throughout sepsis in serum exosomes, associating it with blood clotting restraint [Li et al. DOI:10.1016/j.jare.2021.11.005].