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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]
[中文简述(自动翻译):]  由该基因编码的蛋白质是一个等离子体蛋白酶抑制剂和丝氨酸蛋白酶抑制剂超家族的成员。这种蛋白抑制凝血酶以及凝血系统的其他活化丝氨酸蛋白酶,它调节凝血级联。该蛋白质包括两个功能域:肝素结合结构域在成熟蛋白质的N末端,在C末端的反应性位点的域。的抑制活性是通过肝素的存在而增强。超过120突变已发现此基因,其中许多已知引起抗凝血酶III缺乏。 [由RefSeq的,2009年7月提供]
SERPINC1基因(以及对应的蛋白质)的细胞分布位置:
SERPINC1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Antithrombin III Deficiency | 0.568805692 | 45 | 32 | BeFree_CLINVAR_CTD_human_GAD_MGD_ORPHANET_UNIPROT |
Venous Thrombosis | 0.142732561 | 12 | 1 | CTD_human_GAD_LHGDN |
Thrombosis | 0.125091382 | 6 | 0 | CTD_human_GAD_LHGDN |
Venous Thromboembolism | 0.122367032 | 2 | 0 | CTD_human_GAD |
Blood Coagulation Disorders | 0.120542884 | 3 | 0 | BeFree_CTD_human |
Disseminated Intravascular Coagulation | 0.120271442 | 4 | 0 | BeFree_CTD_human |
Nephrotic Syndrome | 0.12 | 1 | 0 | CTD_human |
Respiratory Distress Syndrome, Adult | 0.12 | 1 | 0 | CTD_human |
Liver Failure, Acute | 0.12 | 1 | 0 | CTD_human |
Intracranial Thrombosis | 0.12 | 1 | 0 | CTD_human |
Acute Coronary Syndrome | 0.12 | 1 | 0 | CTD_human |
Cerebral Hemorrhage | 0.12 | 1 | 0 | CTD_human |
Icterus | 0.08 | 1 | 0 | RGD |
Endotoxemia | 0.08 | 2 | 0 | RGD |
Thrombophilia | 0.007719925 | 13 | 1 | BeFree_GAD |
Thromboembolism | 0.004810009 | 10 | 0 | BeFree_GAD |
Activated Protein C Resistance | 0.004071628 | 15 | 1 | BeFree |
Protein S Deficiency | 0.002985861 | 11 | 0 | BeFree |
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) | 0.002985861 | 11 | 1 | BeFree |
Cerebral Infarction | 0.002909916 | 3 | 0 | BeFree_GAD |
Renal hypertension | 0.00272435 | 1 | 0 | LHGDN |
Lymphoma | 0.00272435 | 1 | 0 | LHGDN |
Prostatic Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Renal Artery Obstruction | 0.00272435 | 1 | 0 | LHGDN |
Hypertensive disease | 0.002638474 | 2 | 0 | BeFree_GAD |
Lupus anticoagulant disorder | 0.002442977 | 9 | 1 | BeFree |
Alzheimer's Disease | 0.002367032 | 1 | 0 | GAD |
Chorioamnionitis | 0.002367032 | 1 | 0 | GAD |
Coronary Thrombosis | 0.002367032 | 1 | 0 | GAD |
Fetal Membranes, Premature Rupture | 0.002367032 | 1 | 0 | GAD |
Premature Obstetric Labor | 0.002367032 | 1 | 0 | GAD |
Myocardial Infarction | 0.002367032 | 1 | 0 | GAD |
Pre-Eclampsia | 0.002367032 | 1 | 0 | GAD |
Premature Birth | 0.002367032 | 1 | 0 | GAD |
Pregnancy loss | 0.002367032 | 1 | 0 | GAD |
Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified | 0.002367032 | 1 | 0 | GAD |
Factor V Leiden mutation | 0.001900093 | 7 | 0 | BeFree |
Congenital Abnormality | 0.001628651 | 6 | 0 | BeFree |
Deep Vein Thrombosis | 0.001628651 | 6 | 3 | BeFree |
Hereditary Antithrombin Deficiency | 0.001628651 | 6 | 1 | BeFree |
Protein C Deficiency | 0.001357209 | 5 | 0 | BeFree |
Ischemic stroke | 0.001085767 | 4 | 0 | BeFree |
Ischemic Cerebrovascular Accident | 0.001085767 | 4 | 0 | BeFree |
Pulmonary Embolism | 0.000814326 | 3 | 0 | BeFree |
Cerebrovascular accident | 0.000814326 | 3 | 0 | BeFree |
Deep vein thrombosis of lower limb | 0.000814326 | 3 | 0 | BeFree |
Hypoplasminogenemia | 0.000814326 | 3 | 0 | BeFree |
Liver carcinoma | 0.000814326 | 3 | 0 | BeFree |
Coronary heart disease | 0.000542884 | 2 | 0 | BeFree |
Homocystinuria | 0.000542884 | 2 | 0 | BeFree |
Liver neoplasms | 0.000542884 | 2 | 0 | BeFree |
Thrombophlebitis | 0.000542884 | 2 | 0 | BeFree |
Deep thrombophlebitis | 0.000542884 | 2 | 3 | BeFree |
Malnutrition | 0.000542884 | 2 | 0 | BeFree |
ANTITHROMBIN III DEFICIENCY, FAMILIAL | 0.000542884 | 2 | 0 | BeFree |
Mesenteric Venous Thrombosis | 0.000542884 | 2 | 0 | BeFree |
Cerebral venous sinus thrombosis | 0.000542884 | 2 | 0 | BeFree |
Homocysteinemia | 0.000542884 | 2 | 0 | BeFree |
Amyloidosis | 0.000271442 | 1 | 0 | BeFree |
Aplastic Anemia | 0.000271442 | 1 | 0 | BeFree |
Arteriosclerosis | 0.000271442 | 1 | 0 | BeFree |
Rheumatoid Arthritis | 0.000271442 | 1 | 0 | BeFree |
Atherosclerosis | 0.000271442 | 1 | 0 | BeFree |
Autoimmune Diseases | 0.000271442 | 1 | 0 | BeFree |
Charcot-Marie-Tooth Disease | 0.000271442 | 1 | 0 | BeFree |
Diabetes | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus, Insulin-Dependent | 0.000271442 | 1 | 0 | BeFree |
Down Syndrome | 0.000271442 | 1 | 0 | BeFree |
Esophageal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Hepatic Vein Thrombosis | 0.000271442 | 1 | 0 | BeFree |
Kidney Diseases | 0.000271442 | 1 | 0 | BeFree |
Legg-Calve-Perthes Disease | 0.000271442 | 1 | 0 | BeFree |
Acute lymphocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Lymphocytic, Acute, L1 | 0.000271442 | 1 | 0 | BeFree |
Lupus Vulgaris | 0.000271442 | 1 | 0 | BeFree |
Lupus Erythematosus, Discoid | 0.000271442 | 1 | 0 | BeFree |
Lupus Erythematosus, Systemic | 0.000271442 | 1 | 0 | BeFree |
Paroxysmal nocturnal hemoglobinuria | 0.000271442 | 1 | 0 | BeFree |
Degenerative polyarthritis | 0.000271442 | 1 | 0 | BeFree |
Polycystic Ovary Syndrome | 0.000271442 | 1 | 0 | BeFree |
Retinal Diseases | 0.000271442 | 1 | 0 | BeFree |
Supraventricular tachycardia | 0.000271442 | 1 | 0 | BeFree |
Cerebral Thrombosis | 0.000271442 | 1 | 0 | BeFree |
Neurofibrillary degeneration (morphologic abnormality) | 0.000271442 | 1 | 0 | BeFree |
Essential Hypertension | 0.000271442 | 1 | 0 | BeFree |
Esophageal carcinoma | 0.000271442 | 1 | 0 | BeFree |
anticoagulant disorders | 0.000271442 | 1 | 0 | BeFree |
Liver and Intrahepatic Biliary Tract Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
Lupus Erythematosus | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of esophagus | 0.000271442 | 1 | 0 | BeFree |
Hypofibrinogenemia | 0.000271442 | 1 | 0 | BeFree |
Central nervous system lymphoma | 0.000271442 | 1 | 0 | BeFree |
Budd-Chiari Syndrome | 0.000271442 | 1 | 0 | BeFree |
Sarcoma | 0.000271442 | 1 | 0 | BeFree |
Tumor-Associated Vasculature | 0.000271442 | 1 | 0 | BeFree |
Congenital disorder of glycosylation type 1B | 0.000271442 | 1 | 0 | BeFree |
Parvovirus B19 (disease) | 0.000271442 | 1 | 0 | BeFree |
Prothrombin G20210A mutation | 0.000271442 | 1 | 0 | BeFree |
Hereditary antithrombin III deficiency | 0.000271442 | 1 | 0 | BeFree |
Plaque, Amyloid | 0.000271442 | 1 | 0 | BeFree |
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