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The protein encoded by this gene is secreted and is a serine protease inhibitor whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Defects in this gene can cause emphysema or liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  由该基因编码的蛋白质被分泌,并且是丝氨酸蛋白酶抑制剂,其目标包括弹性蛋白酶,纤溶酶,凝血酶,胰蛋白酶,胰凝乳蛋白酶,和纤维蛋白溶酶原活化剂。在这个基因的缺陷可能导致肺气肿或肝脏疾病。已发现了该基因编码相同的蛋白质几个抄本变形。 [由RefSeq的,2008年7月提供]
SERPINA1基因(以及对应的蛋白质)的细胞分布位置:
SERPINA1基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| alpha 1-Antitrypsin Deficiency | 0.438751952 | 127 | 11 | BeFree_CLINVAR_CTD_human_GAD_ORPHANET |
| Chronic Obstructive Airway Disease | 0.178707522 | 66 | 3 | BeFree_CTD_human_GAD_LHGDN |
| Liver diseases | 0.159456217 | 92 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Pulmonary Emphysema | 0.156035756 | 116 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Lung diseases | 0.142212083 | 46 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Liver carcinoma | 0.137044756 | 36 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Liver Cirrhosis | 0.136340051 | 30 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Bronchiectasis | 0.131096779 | 9 | 0 | BeFree_CTD_human_GAD |
| Asbestosis | 0.125634266 | 2 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Lung Neoplasms | 0.125362824 | 4 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Pathological accumulation of air in tissues | 0.124734064 | 3 | 0 | CTD_human_GAD |
| HIV Infections | 0.123724241 | 6 | 0 | BeFree_CTD_human_GAD |
| Vasculitis | 0.122442977 | 10 | 0 | BeFree_CTD_human |
| Cholestasis | 0.120814326 | 4 | 0 | BeFree_CTD_human |
| Bipolar Disorder | 0.120542884 | 3 | 0 | BeFree_CTD_human |
| Neoplasm Metastasis | 0.120542884 | 3 | 0 | BeFree_CTD_human |
| Panniculitis, Nodular Nonsuppurative | 0.120542884 | 3 | 0 | BeFree_CTD_human |
| Pulmonary Fibrosis | 0.120542884 | 3 | 0 | BeFree_CTD_human |
| Anxiety Disorders | 0.120271442 | 2 | 0 | BeFree_CTD_human |
| Arteriosclerosis | 0.120271442 | 2 | 3 | BeFree_CTD_human |
| Adenocarcinoma | 0.12 | 1 | 0 | CTD_human |
| Hemorrhage | 0.12 | 1 | 0 | CTD_human |
| Hypoglycemia | 0.12 | 1 | 0 | CTD_human |
| Stomach Neoplasms | 0.12 | 1 | 0 | CTD_human |
| Thiamine Deficiency | 0.12 | 1 | 0 | CTD_human |
| Neurodegenerative Disorders | 0.12 | 1 | 0 | CTD_human |
| FRAXE Syndrome | 0.12 | 0 | 1 | CLINVAR |
| Asthma | 0.095992664 | 20 | 0 | BeFree_GAD_LHGDN_RGD |
| Pancreatitis | 0.080814326 | 4 | 0 | BeFree_RGD |
| Hyperaldosteronism | 0.08 | 1 | 0 | RGD |
| Pulmonary Hypertension | 0.08 | 1 | 0 | RGD |
| Liver Neoplasms, Experimental | 0.08 | 1 | 0 | RGD |
| Degenerative polyarthritis | 0.08 | 1 | 0 | RGD |
| Proteinuria | 0.08 | 1 | 0 | RGD |
| Drug-Induced Liver Injury | 0.08 | 1 | 0 | RGD |
| Cystic Fibrosis | 0.013082749 | 16 | 0 | BeFree_GAD_LHGDN |
| alpha-1-Antitrypsin Deficiency, Autosomal Recessive | 0.011672 | 43 | 0 | BeFree |
| Lung Diseases, Obstructive | 0.010825337 | 9 | 0 | BeFree_GAD |
| Malignant neoplasm of lung | 0.008458305 | 7 | 0 | BeFree_GAD |
| Liver neoplasms | 0.006981544 | 18 | 0 | BeFree_GAD |
| Alzheimer's Disease | 0.00617715 | 5 | 0 | BeFree_GAD_LHGDN |
| Rheumatoid Arthritis | 0.006167218 | 14 | 0 | BeFree_GAD |
| Prostatic Neoplasms | 0.0054487 | 2 | 0 | LHGDN |
| Infection | 0.0054487 | 2 | 0 | LHGDN |
| Fatty Liver | 0.005091382 | 2 | 0 | GAD_LHGDN |
| Atherosclerosis | 0.005005506 | 3 | 3 | BeFree_GAD |
| Common Variable Immunodeficiency | 0.005005506 | 2 | 0 | BeFree_GAD |
| Cardiovascular Diseases | 0.004734064 | 2 | 0 | GAD |
| Myocardial Infarction | 0.004734064 | 2 | 0 | GAD |
| Tobacco Use Disorder | 0.004734064 | 2 | 0 | GAD |
| Blood pressure finding | 0.004734064 | 1 | 1 | GAD |
| Systemic arterial pressure | 0.004734064 | 1 | 1 | GAD |
| Chronic liver disease | 0.004071628 | 15 | 0 | BeFree |
| Hepatitis | 0.003538676 | 4 | 0 | BeFree_LHGDN |
| Hepatitis C | 0.003538676 | 4 | 0 | BeFree_LHGDN |
| Cirrhosis | 0.003528744 | 13 | 0 | BeFree |
| Colorectal Cancer | 0.003452799 | 4 | 0 | BeFree_GAD |
| Crohn Disease | 0.003267234 | 3 | 0 | BeFree_LHGDN |
| Ki-1+ Anaplastic Large Cell Lymphoma | 0.003267234 | 2 | 0 | BeFree_LHGDN |
| Dementia | 0.003267234 | 3 | 0 | BeFree_LHGDN |
| Airway Obstruction | 0.003181358 | 4 | 0 | BeFree_GAD |
| Dyspnea | 0.003181358 | 3 | 0 | BeFree_GAD |
| Psoriasis | 0.003181358 | 3 | 0 | BeFree_GAD |
| Diabetes Mellitus | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| insulinoma | 0.002995792 | 1 | 0 | BeFree_LHGDN |
| Uveitis | 0.002995792 | 1 | 0 | BeFree_LHGDN |
| Granulomatosis with polyangiitis | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Pancreatitis, Chronic | 0.002909916 | 3 | 0 | BeFree_GAD |
| Escherichia coli Infections | 0.00272435 | 1 | 0 | LHGDN |
| Esophageal and Gastric Varices | 0.00272435 | 1 | 0 | LHGDN |
| Inflammation | 0.00272435 | 1 | 0 | LHGDN |
| Disease Progression | 0.00272435 | 1 | 0 | LHGDN |
| Mammary Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Coughing | 0.002638474 | 2 | 0 | BeFree_GAD |
| Hypertension, Portal | 0.002638474 | 2 | 0 | BeFree_GAD |
| Liver Cirrhosis, Alcoholic | 0.002638474 | 2 | 0 | BeFree_GAD |
| Rhinitis | 0.002638474 | 2 | 0 | BeFree_GAD |
| Scoliosis, unspecified | 0.002638474 | 1 | 0 | BeFree_GAD |
| Tuberculosis | 0.002638474 | 2 | 0 | BeFree_GAD |
| Williams Syndrome | 0.002638474 | 1 | 0 | BeFree_GAD |
| Pancreatitis, Alcoholic | 0.002638474 | 2 | 0 | BeFree_GAD |
| Supravalvular aortic stenosis | 0.002367032 | 1 | 0 | GAD |
| Bronchitis | 0.002367032 | 1 | 0 | GAD |
| Coronary Arteriosclerosis | 0.002367032 | 1 | 0 | GAD |
| Dislocations | 0.002367032 | 1 | 0 | GAD |
| Membranous glomerulonephritis | 0.002367032 | 1 | 0 | GAD |
| Immunologic Deficiency Syndromes | 0.002367032 | 1 | 0 | GAD |
| Nasal Polyps | 0.002367032 | 1 | 0 | GAD |
| Occupational Diseases | 0.002367032 | 1 | 0 | GAD |
| Peyronie Disease | 0.002367032 | 1 | 0 | GAD |
| Periodontal Diseases | 0.002367032 | 1 | 0 | GAD |
| Periodontitis | 0.002367032 | 1 | 0 | GAD |
| Sinusitis | 0.002367032 | 1 | 0 | GAD |
| Peripheral Vascular Diseases | 0.002367032 | 1 | 0 | GAD |
| Myocardial Ischemia | 0.002367032 | 1 | 0 | GAD |
| Iron Overload | 0.002367032 | 1 | 0 | GAD |
| Hepatitis C, Chronic | 0.002367032 | 1 | 0 | GAD |
| Pregnancy loss | 0.002367032 | 1 | 0 | GAD |
| Ischemic stroke | 0.002367032 | 1 | 0 | GAD |
| Coronary Artery Disease | 0.002367032 | 1 | 0 | GAD |
| Duodenal Ulcer | 0.001900093 | 7 | 0 | BeFree |
| Panacinar Emphysema | 0.001628651 | 6 | 0 | BeFree |
| Chronic active hepatitis | 0.001628651 | 6 | 0 | BeFree |
| Carcinoma of lung | 0.001628651 | 6 | 0 | BeFree |
| Multiple Sclerosis | 0.001357209 | 5 | 0 | BeFree |
| Malnutrition | 0.001357209 | 5 | 0 | BeFree |
| Chronic lung disease | 0.001357209 | 5 | 0 | BeFree |
| Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | 0.001357209 | 5 | 0 | BeFree |
| Blood Coagulation Disorders | 0.001085767 | 4 | 0 | BeFree |
| Exanthema | 0.001085767 | 4 | 0 | BeFree |
| Neonatal hepatitis | 0.001085767 | 4 | 0 | BeFree |
| Fibrosis, Liver | 0.001085767 | 4 | 0 | BeFree |
| Granulomatosis | 0.001085767 | 4 | 0 | BeFree |
| Carcinogenesis | 0.001085767 | 4 | 0 | BeFree |
| Acute anterior uveitis | 0.001085767 | 4 | 0 | BeFree |
| Spots on skin | 0.001085767 | 4 | 0 | BeFree |
| Aneurysm | 0.000814326 | 3 | 0 | BeFree |
| Non-Small Cell Lung Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Bronchitis, Chronic | 0.000814326 | 3 | 0 | BeFree |
| Ulcerative Colitis | 0.000814326 | 3 | 0 | BeFree |
| Colorectal Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Diabetes Mellitus, Insulin-Dependent | 0.000814326 | 3 | 0 | BeFree |
| Hepatitis A | 0.000814326 | 3 | 0 | BeFree |
| Mitral Valve Stenosis | 0.000814326 | 3 | 0 | BeFree |
| Panniculitis | 0.000814326 | 3 | 0 | BeFree |
| Schizophrenia | 0.000814326 | 3 | 0 | BeFree |
| Signs and Symptoms, Respiratory | 0.000814326 | 3 | 0 | BeFree |
| Hereditary hemochromatosis | 0.000814326 | 3 | 0 | BeFree |
| Cholestasis in newborn | 0.000814326 | 3 | 0 | BeFree |
| Arthritis | 0.000542884 | 2 | 0 | BeFree |
| Byssinosis | 0.000542884 | 2 | 0 | BeFree |
| Celiac Disease | 0.000542884 | 2 | 0 | BeFree |
| Intracranial Aneurysm | 0.000542884 | 2 | 0 | BeFree |
| Presenile dementia | 0.000542884 | 2 | 0 | BeFree |
| Down Syndrome | 0.000542884 | 2 | 0 | BeFree |
| Eosinophilia, Tropical | 0.000542884 | 2 | 0 | BeFree |
| Hemochromatosis | 0.000542884 | 2 | 0 | BeFree |
| Hepatitis B | 0.000542884 | 2 | 0 | BeFree |
| Irritable Bowel Syndrome | 0.000542884 | 2 | 0 | BeFree |
| Lymphoma | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of stomach | 0.000542884 | 2 | 0 | BeFree |
| Inborn Errors of Metabolism | 0.000542884 | 2 | 0 | BeFree |
| Pneumonia | 0.000542884 | 2 | 0 | BeFree |
| Respiratory Distress Syndrome, Adult | 0.000542884 | 2 | 0 | BeFree |
| Respiratory Tract Diseases | 0.000542884 | 2 | 0 | BeFree |
| Rheumatism | 0.000542884 | 2 | 0 | BeFree |
| Ankylosing spondylitis | 0.000542884 | 2 | 0 | BeFree |
| Thalassemia | 0.000542884 | 2 | 0 | BeFree |
| Virus Diseases | 0.000542884 | 2 | 0 | BeFree |
| Liver Failure | 0.000542884 | 2 | 0 | BeFree |
| Pancreatic carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Hereditary pancreatitis | 0.000542884 | 2 | 0 | BeFree |
| Cirrhosis, Cryptogenic | 0.000542884 | 2 | 0 | BeFree |
| Congenital Disorders of Glycosylation | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of pancreas | 0.000542884 | 2 | 0 | BeFree |
| Protein C Deficiency | 0.000542884 | 2 | 0 | BeFree |
| Ichthyosis Bullosa of Siemens | 0.000542884 | 2 | 0 | BeFree |
| Stomach Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| COPD exacerbation | 0.000542884 | 2 | 0 | BeFree |
| Acute Chest Syndrome | 0.000542884 | 2 | 0 | BeFree |
| Arthritis, Collagen-Induced | 0.000542884 | 2 | 0 | BeFree |
| Non-Neoplastic Disorder | 0.000542884 | 2 | 0 | BeFree |
| Anaplasia | 0.000271442 | 1 | 0 | BeFree |
| Anemia, Sickle Cell | 0.000271442 | 1 | 0 | BeFree |
| Aortic Aneurysm | 0.000271442 | 1 | 0 | BeFree |
| Behcet Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Biliary Atresia | 0.000271442 | 1 | 0 | BeFree |
| Bloom Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Bone Diseases | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma, Papillary | 0.000271442 | 1 | 0 | BeFree |
| CNS disorder | 0.000271442 | 1 | 0 | BeFree |
| Primary biliary cirrhosis | 0.000271442 | 1 | 0 | BeFree |
| Intrahepatic Cholestasis | 0.000271442 | 1 | 0 | BeFree |
| Cluster Headache | 0.000271442 | 1 | 0 | BeFree |
| Cutis Laxa | 0.000271442 | 1 | 0 | BeFree |
| Diabetes | 0.000271442 | 1 | 0 | BeFree |
| Epidermodysplasia Verruciformis | 0.000271442 | 1 | 0 | BeFree |
| Fibromuscular Dysplasia | 0.000271442 | 1 | 0 | BeFree |
| Gastritis, Atrophic | 0.000271442 | 1 | 0 | BeFree |
| Gaucher Disease | 0.000271442 | 1 | 0 | BeFree |
| Glomerulonephritis, Membranoproliferative | 0.000271442 | 1 | 0 | BeFree |
| Nodular Goiter | 0.000271442 | 1 | 0 | BeFree |
| Graft-vs-Host Disease | 0.000271442 | 1 | 0 | BeFree |
| Chronic granulomatous disease | 0.000271442 | 1 | 0 | BeFree |
| Hepatitis, Chronic | 0.000271442 | 1 | 0 | BeFree |
| Hodgkin Disease | 0.000271442 | 1 | 0 | BeFree |
| Hyperglycemia | 0.000271442 | 1 | 0 | BeFree |
| Hypertensive disease | 0.000271442 | 1 | 0 | BeFree |
| Kidney Failure, Acute | 0.000271442 | 1 | 0 | BeFree |
| Kidney Failure, Chronic | 0.000271442 | 1 | 0 | BeFree |
| Klinefelter Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Fibroid Tumor | 0.000271442 | 1 | 0 | BeFree |
| Leukemia, Lymphocytic, Acute, L1 | 0.000271442 | 1 | 0 | BeFree |
| Myeloid Leukemia, Chronic | 0.000271442 | 1 | 0 | BeFree |
| Low Back Pain | 0.000271442 | 1 | 0 | BeFree |
| Macular degeneration | 0.000271442 | 1 | 0 | BeFree |
| Metabolic Diseases | 0.000271442 | 1 | 0 | BeFree |
| Mucocutaneous Lymph Node Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Obesity | 0.000271442 | 1 | 0 | BeFree |
| Polyarteritis Nodosa | 0.000271442 | 1 | 0 | BeFree |
| Periodontitis, Juvenile | 0.000271442 | 1 | 0 | BeFree |
| Pulmonary Embolism | 0.000271442 | 1 | 0 | BeFree |
| Respiration Disorders | 0.000271442 | 1 | 0 | BeFree |
| Respiratory Distress Syndrome, Newborn | 0.000271442 | 1 | 0 | BeFree |
| Systemic Scleroderma | 0.000271442 | 1 | 0 | BeFree |
| Dermatologic disorders | 0.000271442 | 1 | 0 | BeFree |
| Substance Dependence | 0.000271442 | 1 | 0 | BeFree |
| Takayasu Arteritis | 0.000271442 | 1 | 0 | BeFree |
| Uterine Fibroids | 0.000271442 | 1 | 0 | BeFree |
| Anterior uveitis | 0.000271442 | 1 | 0 | BeFree |
| Lower respiratory tract infection | 0.000271442 | 1 | 0 | BeFree |
| Variegate Porphyria | 0.000271442 | 1 | 0 | BeFree |
| Aortic Aneurysm, Abdominal | 0.000271442 | 1 | 0 | BeFree |
| Diabetes, Autoimmune | 0.000271442 | 1 | 0 | BeFree |
| Canavan Disease | 0.000271442 | 1 | 0 | BeFree |
| Malignant ascites | 0.000271442 | 1 | 0 | BeFree |
| Papillary thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Interstitial fibrosis | 0.000271442 | 1 | 0 | BeFree |
| Obstructive emphysema | 0.000271442 | 1 | 0 | BeFree |
| Age related macular degeneration | 0.000271442 | 1 | 0 | BeFree |
| Chronic disease of respiratory system | 0.000271442 | 1 | 0 | BeFree |
| Micronodular cirrhosis | 0.000271442 | 1 | 0 | BeFree |
| Chronic viral hepatitis | 0.000271442 | 1 | 0 | BeFree |
| Liver and Intrahepatic Biliary Tract Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Cervix carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Hyperplastic Polyp | 0.000271442 | 1 | 0 | BeFree |
| Papillary cystic tumor | 0.000271442 | 1 | 0 | BeFree |
| Pancreatoblastoma | 0.000271442 | 1 | 0 | BeFree |
| Arterial aneurysm | 0.000271442 | 1 | 0 | BeFree |
| Dissection of aorta | 0.000271442 | 1 | 0 | BeFree |
| Microscopic Polyangiitis | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
| Malignant mesothelioma | 0.000271442 | 1 | 0 | BeFree |
| Secondary malignant neoplasm of pancreas | 0.000271442 | 1 | 0 | BeFree |
| Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site | 0.000271442 | 1 | 0 | BeFree |
| Pulmonary Cystic Fibrosis | 0.000271442 | 1 | 0 | BeFree |
| Klinefelter's syndrome - male with more than two X chromosomes | 0.000271442 | 1 | 0 | BeFree |
| Mood Disorders | 0.000271442 | 1 | 0 | BeFree |
| Congenital scoliosis | 0.000271442 | 1 | 0 | BeFree |
| Acquired scoliosis | 0.000271442 | 1 | 0 | BeFree |
| Dissecting aneurysm of the thoracic aorta | 0.000271442 | 1 | 0 | BeFree |
| End Stage Liver Disease | 0.000271442 | 1 | 0 | BeFree |
| Familial Dementia | 0.000271442 | 1 | 0 | BeFree |
| Mitochondrial Diseases | 0.000271442 | 1 | 0 | BeFree |
| Carbamoyl-Phosphate Synthase I Deficiency Disease | 0.000271442 | 1 | 0 | BeFree |
| Lewy Body Disease | 0.000271442 | 1 | 0 | BeFree |
| AICARDI-GOUTIERES SYNDROME 1 | 0.000271442 | 1 | 0 | BeFree |
| Chronic graft-versus-host disease | 0.000271442 | 1 | 0 | BeFree |
| Pelvic Organ Prolapse | 0.000271442 | 1 | 0 | BeFree |
| Non-toxic nodular goiter | 0.000271442 | 1 | 0 | BeFree |
| Hereditary Nonpolyposis Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
| Nephrotic Syndrome, Minimal Change | 0.000271442 | 1 | 0 | BeFree |
| IMMUNE SUPPRESSION | 0.000271442 | 1 | 0 | BeFree |
| Familial encephalopathy with neuroserpin inclusion bodies | 0.000271442 | 1 | 0 | BeFree |
| Chronic kidney disease stage 5 | 0.000271442 | 1 | 0 | BeFree |
| Protein Misfolding Disorders | 0.000271442 | 1 | 0 | BeFree |
| Plaque, Amyloid | 0.000271442 | 1 | 0 | BeFree |
| Well Differentiated Hepatocellular Carcinoma | 0.000271442 | 1 | 0 | BeFree |
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