| Tclin | Antithrombin-III |
Most important serine protease inhibitor in plasma that regulates the blood coagulation cascade. AT-III inhibits thrombin, matriptase-3/TMPRSS7, as well as factors IXa, Xa and XIa. Its inhibitory activity is greatly enhanced in the presence of heparin.
The protein encoded by this gene 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. More than 120 mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency. [provided by RefSeq, Jul 2009]
The protein encoded by this gene 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. More than 120 mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency. [provided by RefSeq, Jul 2009]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| adult high grade glioma | 2148 | 5.17679167357798E-4 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG |
| Macaque | OMA EggNOG Inparanoid |
| Mouse | OMA EggNOG Inparanoid |
| Dog | OMA EggNOG Inparanoid |
| Cow | OMA EggNOG Inparanoid |
| Opossum | OMA EggNOG Inparanoid |
| Platypus | OMA EggNOG Inparanoid |
| Chicken | OMA EggNOG |
| Anole lizard | OMA EggNOG Inparanoid |
| Xenopus | OMA EggNOG Inparanoid |
CHEMBL51173
pIC50 6.24
CHEMBL609990
pKd 7.24
CHEMBL1909451
pKd 8.16
CHEMBL2303814
pKd 8.55
CHEMBL2303815
pKd 8.72
CHEMBL1908371
pKd 9.00
| PMID | Text |
|---|---|
| 27003919 | The relevance of the vitamin D pathway on the regulation of SERPINC1 was confirmed in a cell model. |
| 26354831 | Elevated levels of circulating microparticles can play a role in carriers of mild and severe inherited thrombophilia resulting from antithrombin deficiency. |
| 26177694 | Letter/Case Report: novel antithrombin mutation resulting in antithrombin deficiency and arterial/venous thrombosis. |
| 26108065 | Patients with low antithrombin III activities presented a higher risk of developing acute kidney injury after cardiac surgery. |
| 25851619 | Selective disruption of exosite-mediated regulation of factor IX by heparin and antithrombin can be achieved with preserved or enhanced thrombin generation capacity. |
| 25837307 | analysis of mutations in SERPINC1 with a role in Hereditary antithrombin (AT) deficiency |
| 25811371 | this is the first report of AT mutations in SERPINC1 gene in Indo-Aryan population where a novel point mutation p.T280A and a novel single nucleotide insertion g.13362_13363insA are reported. |
| 25771983 | Polymorphisms in factor V and antithrombin III gene in recurrent pregnancy loss |
| 25522812 | c.1058C>T variant in the SERPINC1 gene is pathogenic for antithrombin deficiency. |
| 25483839 | This suggests that allosteric information propagation pathways are present even in the non-activated native form of antithrombin. |
| More... |
MYSNVIGTVTSGKRKVYLLSLLLIGFWDCVTCHGSPVDICTAKPRDIPMNPMCIYRSPEKKATEDEGSEQ 1 - 70 KIPEATNRRVWELSKANSRFATTFYQHLADSKNDNDNIFLSPLSISTAFAMTKLGACNDTLQQLMEVFKF 71 - 140 DTISEKTSDQIHFFFAKLNCRLYRKANKSSKLVSANRLFGDKSLTFNETYQDISELVYGAKLQPLDFKEN 141 - 210 AEQSRAAINKWVSNKTEGRITDVIPSEAINELTVLVLVNTIYFKGLWKSKFSPENTRKELFYKADGESCS 211 - 280 ASMMYQEGKFRYRRVAEGTQVLELPFKGDDITMVLILPKPEKSLAKVEKELTPEVLQEWLDELEEMMLVV 281 - 350 HMPRFRIEDGFSLKEQLQDMGLVDLFSPEKSKLPGIVAEGRDDLYVSDAFHKAFLEVNEEGSEAAASTAV 351 - 420 VIAGRSLNPNRVTFKANRPFLVFIREVPLNTIIFMGRVANPCVK 421 - 464 //
| PMID | Year | Title |
|---|---|---|
| 27003919 | 2016 | Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency. |
| 26354831 | 2016 | Circulating microparticles and the risk of thrombosis in inherited deficiencies of antithrombin, protein C and protein S. |
| 26177694 | 2015 | A novel mutation of antithrombin deficiency in six family siblings and the clinical combat. |
| 26108065 | 2015 | Antithrombin III/SerpinC1 insufficiency exacerbates renal ischemia/reperfusion injury. |
| 26091039 | 2015 | A Single Kinase Generates the Majority of the Secreted Phosphoproteome. |
| 25851619 | 2015 | Selective disruption of heparin and antithrombin-mediated regulation of human factor IX. |
| 25837307 | 2015 | Antithrombin heparin binding site deficiency: A challenging diagnosis of a not so benign thrombophilia. |
| 25811371 | 2015 | Antithrombin III deficiency in Indian patients with deep vein thrombosis: identification of first India based AT variants including a novel point mutation (T280A) that leads to aggregation. |
| 25771983 | 2015 | Polymorphisms in factor V and antithrombin III gene in recurrent pregnancy loss: a case-control study in Indian population. |
| 25522812 | 2015 | c.1058C>T variant in the SERPINC1 gene is pathogenic for antithrombin deficiency. |
| More... |
