SERPINC1 - serpin family C member 1 Gene
Also Known as AT3; AT3D; ATIII; THPH7; ATIII-R2; ATIII-T1; ATIII-T2
Species: Homo sapiens
About SERPINC1
This gene has 3 transcripts (splice variants), 201 orthologues, 36 paralogues and is associated with 2 phenotypes. Restricted expression toward liver (RPKM 926.4).
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]
SERPINC1 Products (7)
| mRNA | Protein | Name |
|---|---|---|
| NM_000488.4 | NP_000479.1 | antithrombin-III isoform 1 precursor |
| NM_001365052.2 | NP_001351981.1 | antithrombin-III isoform 2 |
| NM_001386302.1 | NP_001373231.1 | antithrombin-III isoform 3 precursor |
| NM_001386303.1 | NP_001373232.1 | antithrombin-III isoform 4 |
| NM_001386304.1 | NP_001373233.1 | antithrombin-III isoform 5 precursor |
| NM_001386305.1 | NP_001373234.1 | antithrombin-III isoform 6 precursor |
| NM_001386306.1 | NP_001373235.1 | antithrombin-III isoform 7 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
18923394 | GOA |
| enables protease binding |
IPI
IPI: Inferred from physical interaction
|
15853774 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
2013320 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
1695900 | GOA |
SERPINC1 Protein Structure
Serpin: Serpin (serine protease inhibitor) (86 - 461)
- 0
- 100
- 200
- 300
- 400
- 464 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
antithrombin-III |
|
SERPINC1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SERPINC1 | P01008 | SERPINC1 | Homo sapiens | P01008 | 18923394 | |
|
Intra
|
SERPINC1 | P01008 | SUCLG1 | Homo sapiens | P53597 | 33961781 | |
|
Intra
|
SERPINC1 | P01008 | F9 | Homo sapiens | P00740 | 20080729 | |
|
Intra
|
SERPINC1 | P01008 | FAM20C | Homo sapiens | Q8IXL6 | 22582013 | |
|
Intra
|
SERPINC1 | P01008 | SUCLG1 | Homo sapiens | P53597 | 28514442 | |
|
Intra
|
SERPINC1 | P01008 | BTD | Homo sapiens | P43251 | 28514442 | |
|
Intra
|
SERPINC1 | P01008 | TEX15 | Homo sapiens | Q9BXT5 | 33961781 | |
|
Intra
|
SERPINC1 | P01008 | TUBB1 | Homo sapiens | Q9H4B7 | 33961781 | |
|
Intra
|
SERPINC1 | P01008 | BTD | Homo sapiens | P43251 | 33961781 | |
|
Intra
|
SERPINC1 | P01008 | OS9 | Homo sapiens | Q13438 | 28514442 | |
|
Intra
|
SERPINC1 | P01008 | SERPINC1 | Homo sapiens | P01008 | 18923394 | |
|
Intra
|
SERPINC1 | P01008 | TEX15 | Homo sapiens | Q9BXT5 | 28514442 | |
|
Intra
|
SERPINC1 | P01008 | TUBB1 | Homo sapiens | Q9H4B7 | 28514442 | |
|
Intra
|
SERPINC1 | P01008 | OS9 | Homo sapiens | Q13438 | 33961781 |
Recombinant SERPINC1 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P72831 | Antithrombin III/Serpin C1 Protein, Human (HEK293, His) | P01008 (S35-K464) | ≥ 90%, as determined by reducing SDS-PAGE. |
SERPINC1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83607 | Antithrombin III Antibody (YA3352) | WB, ICC/IF | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Antithrombin Iii Deficiency |
|
|
| Thrombosis |
|
|
| Disseminated Intravascular Coagulation |
|
|
| Hepatic Veno-Occlusive Disease |
|
|
| Sagittal Sinus Thrombosis |
|
|
| Protein S Deficiency |
|
|
| Pulmonary Embolism |
|
|
| Portal Vein Thrombosis |
|
|
| Protein C Deficiency |
|
|
| Thrombophlebitis |
|
|
| Thrombophilia |
|
|
| Intracranial Thrombosis |
|
|
| Thrombophilia Due To Activated Protein C Resistance |
|
|
| Placental Abruption |
|
|
| Purpura Fulminans |
|
|
| Antiphospholipid Syndrome |
|
|
| Congenital Disorder Of Glycosylation, Type Ia |
|
|
| Post-Thrombotic Syndrome |
|
|
| Coronary Thrombosis |
|
|
| Legg-Calve-Perthes Disease |
|
|
| Sneddon Syndrome |
|
|
| Retinal Vein Occlusion |
|
|
| Factor Xii Deficiency |
|
|
| Purpura |
|
|
| Budd-Chiari Syndrome |
|
|
| Thrombophilia Due To Thrombin Defect |
|
|
| Hyperhomocysteinemia |
|
|
| Hellp Syndrome |
|
|
| Retinal Artery Occlusion |
|
|
| Intracranial Sinus Thrombosis |
|
|
| Hemorrhagic Disease |
|
|
| Thrombocytosis |
|
|
| Varicose Veins |
|
|
| Eclampsia |
|
|
| Central Retinal Vein Occlusion |
|
|
| Pulmonary Artery Disease |
|
|
| Homocystinuria |
|
|
| Factor Xi Deficiency |
|
|
| Hypersplenism |
|
|
| Blood Protein Disease |
|
|
| Liver Cirrhosis |
|
|
| Afibrinogenemia, Congenital |
|
|
| Vulvar Angiokeratoma |
|
|
| Myocardial Stunning |
|
|
| Hemophilia B |
|
|
| Severe Pre-Eclampsia |
|
|
| Coronary Restenosis |
|
|
| Endocarditis |
|
|
| Acute Myocardial Infarction |
|
|
| Stroke, Ischemic |
|
|
| Placenta Disease |
|
|
| Thrombotic Thrombocytopenic Purpura |
|
|
| Dysfibrinogenemia, Congenital |
|
|
| Pre-Eclampsia |
|
|
| Thoracic Outlet Syndrome |
|
|
| Blood Coagulation Disease |
|
|
| Intermittent Claudication |
|
|
| Fibrinolytic Defect |
|
|
| Blood Platelet Disease |
|
|
| Branch Retinal Artery Occlusion |
|
|
| Cavernous Sinus Thrombosis |
|
|
| Vein Disease |
|
|
| Hemoglobinuria |
|
|
| Alpha-2-Plasmin Inhibitor Deficiency |
|
|
| Vascular Disease |
|
|
| Factor Vii Deficiency |
|
|
| Nonbacterial Thrombotic Endocarditis |
|
|
| Myocardial Infarction |
|
|
| Thrombocytopenia |
|
|
| Patent Foramen Ovale |
|
|
| Hepatic Vascular Disease |
|
|
| Hemolytic-Uremic Syndrome |
|
|
| Alpha-1-Antitrypsin Deficiency |
|
|
| Ovarian Hyperstimulation Syndrome |
|
|
| Dic In Newborn |
|
|
| Preeclampsia/Eclampsia 1 |
|
|
| Heparin Cofactor Ii Deficiency |
|
|
| Pulmonary Edema |
|
|
| Autoimmune Disease Of Cardiovascular System |
|
|
| Placental Insufficiency |
|
|
| Mastoiditis |
|
|
| Nephrotic Syndrome |
|
|
| Congenital Disorder Of Glycosylation, Type Ib |
|
|
| Acute Vascular Insufficiency Of Intestine |
|
|
| Prothrombin Deficiency |
|
|
| Intracranial Embolism |
|
|
| Nonarteritic Anterior Ischemic Optic Neuropathy |
|
|
| Toxic Shock Syndrome |
|
|
| Meningococcemia |
|
|
| Osteonecrosis |
|
|
| Splenic Infarction |
|
|
| Platelet Aggregation, Spontaneous |
|
|
| Vertical Talus, Congenital |
|
|
| Prothrombin Deficiency, Congenital |
|
|
| Livedoid Vasculitis |
|
|
| Intracranial Hypotension |
|
|
| Papilledema |
|
|
| Arteriosclerosis |
|
|
| Retinal Vascular Occlusion |
|
|
| Esophageal Varix |
|
|
| Giant Hemangioma |
|
|
| Cardiovascular System Disease |
|
|
| Lemierre'S Syndrome |
|
|
| Lateral Sinus Thrombosis |
|
|
| Compartment Syndrome |
|
|
| Mitral Valve Stenosis |
|
|
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
|
| Heart Disease |
|
|
| Chronic Venous Insufficiency |
|
|
| Vitamin K Deficiency Bleeding |
|
|
| Polycythemia Vera |
|
|
| Beta-Thalassemia |
|
|
| Plasminogen Deficiency, Type I |
|
|
| Central Retinal Artery Occlusion |
|
|
| Cholesterol Embolism |
|
|
| Central Nervous System Origin Vertigo |
|
|
| Hepatic Coma |
|
|
| Factor V Deficiency |
|
|
| Hepatic Infarction |
|
|
| Achenbach Syndrome |
|
|
| Factor Viii Deficiency |
|
|
| Ischemic Colitis |
|
|
| Abducens Palsy |
|
|
| Protein-Losing Enteropathy |
|
|
| Carotid Artery Thrombosis |
|
|
| Factor X Deficiency |
|
|
| Hemarthrosis |
|
|
| Malaria |
|
|
| Von Willebrand'S Disease |
|
|
| Factor Xiii Deficiency |
|
|
| Thrombophlebitis Migrans |
|
|
| Waterhouse-Friderichsen Syndrome |
|
|
| Cavernous Hemangioma |
|
|
| Atrial Heart Septal Defect |
|
|
| Intermediate Coronary Syndrome |
|
|
| Buerger Disease |
|
|
| Cranial Nerve Palsy |
|
|
| Moyamoya Disease 1 |
|
|
| Intracranial Hypertension |
|
|
| Mild Pre-Eclampsia |
|
|
| Bacterial Sepsis |
|
|
| Amino Acid Metabolic Disorder |
|
|
| Mitral Valve Disease |
|
|
| Cerebral Palsy |
|
|
| Transient Cerebral Ischemia |
|
|
| Limb Ischemia |
|
|
| Deficiency Anemia |
|
|
| Endocardium Disease |
|
|
| Puerperal Pulmonary Embolism |
|
|
| Peripheral Vascular Disease |
|
|
| Carotid Artery Disease |
|
|
| Leukemia, Acute Lymphoblastic |
|
|
| Heart Conduction Disease |
|
|
| Lipoprotein Quantitative Trait Locus |
|
|
| Hereditary Angioedema |
|
|
| Heart Septal Defect |
|
|
| Systemic Lupus Erythematosus |
|
|
| Coronavirus Infectious Disease |
|
|
| Hemoglobin H Disease |
|
|
| Inflammatory Bowel Disease |
|
|
| Hypertension, Essential |
|
|
| Sickle Cell Anemia |
|
|
| Diabetes Mellitus |
|
|
| Gastroduodenal Crohn'S Disease |
|
|
| Klippel-Trenaunay-Weber Syndrome |
|
|
| Behcet Syndrome |
|
|
| Osteoporosis |
|
|
| Respiratory Failure |
|
|
| Congenital Disorder Of Glycosylation, Type In |
|
|
| Bilirubin Metabolic Disorder |
|
|
| Nervous System Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | SERPINC1 | VGNC | VGNC:77360 |
| Mus musculus | SERPINC1 | MGD | MGI:88095 |
| Bos taurus | SERPINC1 | VGNC | VGNC:34474 |
| Felis catus | SERPINC1 | VGNC | VGNC:68460 |
| Canis familiaris | SERPINC1 | VGNC | VGNC:46034 |
| Rattus norvegicus | SERPINC1 | RGD | RGD:1307404 |
| Others | SERPINC1 | NCBI |