Property Summary

NCBI Gene PubMed Count 206
Grant Count 399
R01 Count 202
Funding $49,352,145.36
PubMed Score 9542.94
PubTator Score 4170.72

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (63)

Disease Z-score Confidence
Thrombophilia 36 7.919 4.0
Antithrombin III deficiency 9 7.432 3.7
Blood protein disease 10 6.701 3.4
Protein C deficiency 19 6.453 3.2
Pulmonary Embolism 45 6.185 3.1
Coronary artery disease 240 5.623 2.8
Thrombocytopenia 105 5.465 2.7
Cerebrovascular disease 231 5.353 2.7
Thrombophlebitis 16 5.122 2.6
Antiphospholipid syndrome 18 5.121 2.6
Hyperhomocysteinemia 34 5.072 2.5
Hypertension 287 4.888 2.4
Portal vein thrombosis 9 4.841 2.4
Heart disease 279 4.815 2.4
Kidney disease 396 4.795 2.4
Liver disease 219 4.776 2.4
post-thrombotic syndrome 5 4.584 2.3
Cancer 2,346 4.456 2.2
Placental abruption 15 4.392 2.2
Purpura 17 4.283 2.1
Hepatic vein thrombosis 8 4.203 2.1
Atherosclerosis 275 4.132 2.1
Peripheral vascular disease 90 4.123 2.1
Lung disease 132 3.925 2.0
diabetes mellitus 1,663 3.864 1.9
Lupus erythematosus 80 3.821 1.9
Leech infestation 1 3.669 1.8
Varicose veins 15 3.533 1.8
Anemia 252 3.508 1.8
Connective tissue disease 59 3.456 1.7
Pancreatitis 97 3.435 1.7
Vasculitis 64 3.408 1.7
Homocystinuria 23 3.278 1.6
Aortic aneurysm 34 3.237 1.6
Inflammatory bowel disease 142 3.184 1.6
Congenital disorder of glycosylation 53 3.164 1.6
Familial encephalopathy with neuroserpin... 8  3.151 1.6
Intermittent claudication 16 3.122 1.6
Hemophilia B 11 3.048 1.5
Acute coronary syndrome 37
Blood Coagulation Disorders 8
Cerebral Hemorrhage 27
Deep Vein Thrombosis with Pulmonary Embo... 2 
Deep venous thrombosis 2
Disseminated intravascular coagulation 32
Intracranial Thrombosis 3
Liver Failure, Acute 22
Maintain Patency of Indwelling Vascular ... 1 
Nephrotic Syndrome 48
Non-Q wave myocardial infarction 4
Peripheral Arterial Thromboembolism Prev... 2 
Peripheral arterial embolism 1
Prevention of Cardiac Ischemia in Unstab... 1 
Prevention of Ischemic Complications of ... 1 
Prevention of Recurrent Venous Thrombosi... 1 
Prevention of deep vein thrombosis 7
Pulmonary Thromboembolism Prevention 2
Pulmonary thromboembolism 2
Respiratory Distress Syndrome, Adult 6
Thrombosis 42
Venous Thromboembolism 34
Venous Thrombosis 21
adult high grade glioma 2,148

Expression

  Differential Expression (1)

Disease log2 FC p
adult high grade glioma 1.100 0.001

Synonym

Accession P01008 B2R6P0 P78439 P78447 Q13815 Q5TC78 Q7KZ43 Q7KZ97 Q9UC78 ATIII
Symbols AT3
AT3D
ATIII
THPH7

Gene

PDB

1ANT   1ATH   1AZX   1BR8   1DZG   1DZH   1E03   1E04   1E05   1JVQ   1LK6   1NQ9   1OYH   1R1L   1SR5   1T1F   1TB6   2ANT   2B4X   2B5T   2BEH   2GD4   2HIJ   2ZNH   3EVJ   3KCG   4EB1  

Gene RIF (109)

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...

AA Sequence

MYSNVIGTVTSGKRKVYLLSLLLIGFWDCVTCHGSPVDICTAKPRDIPMNPMCIYRSPEKKATEDEGSEQ      1 - 70
KIPEATNRRVWELSKANSRFATTFYQHLADSKNDNDNIFLSPLSISTAFAMTKLGACNDTLQQLMEVFKF     71 - 140
DTISEKTSDQIHFFFAKLNCRLYRKANKSSKLVSANRLFGDKSLTFNETYQDISELVYGAKLQPLDFKEN    141 - 210
AEQSRAAINKWVSNKTEGRITDVIPSEAINELTVLVLVNTIYFKGLWKSKFSPENTRKELFYKADGESCS    211 - 280
ASMMYQEGKFRYRRVAEGTQVLELPFKGDDITMVLILPKPEKSLAKVEKELTPEVLQEWLDELEEMMLVV    281 - 350
HMPRFRIEDGFSLKEQLQDMGLVDLFSPEKSKLPGIVAEGRDDLYVSDAFHKAFLEVNEEGSEAAASTAV    351 - 420
VIAGRSLNPNRVTFKANRPFLVFIREVPLNTIIFMGRVANPCVK                              421 - 464
//

Text Mined References (215)

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...