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The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG2. Defects in this gene can be the cause of several diseases. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  由该基因编码的蛋白参与免疫球蛋白V-D-J重组的活化。所编码的蛋白质是参与识别的DNA底物,但稳定的结合和切割活性也需要RAG2。在这个基因的缺陷可以是几种疾病的病因。 [由RefSeq的,2008年7月提供]
RAG1基因(以及对应的蛋白质)的细胞分布位置:
RAG1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY | 0.48 | 1 | 2 | CLINVAR_CTD_human_ORPHANET_UNIPROT |
Combined Cellular And Humoral Immune Defects With Granulomas | 0.48 | 2 | 6 | CLINVAR_CTD_human_ORPHANET_UNIPROT |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive | 0.24 | 0 | 0 | CTD_human_ORPHANET |
Omenn Syndrome | 0.24 | 7 | 24 | ORPHANET_UNIPROT |
Severe Combined Immunodeficiency | 0.145684746 | 31 | 3 | BeFree_CLINVAR_GAD_LHGDN |
Histiocytic medullary reticulosis (disorder) | 0.126514605 | 24 | 9 | BeFree_CLINVAR |
Reticuloendotheliosis, familial, with eosinophilia | 0.12 | 0 | 0 | CTD_human |
Immunologic Deficiency Syndromes | 0.00643866 | 16 | 0 | BeFree_GAD |
Malignant neoplasm of urinary bladder | 0.004734064 | 2 | 0 | GAD |
Lymphoma, Non-Hodgkin | 0.004734064 | 2 | 0 | GAD |
Infectious Mononucleosis | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Rheumatoid Arthritis | 0.002638474 | 2 | 0 | BeFree_GAD |
Lymphoma, Follicular | 0.002638474 | 2 | 3 | BeFree_GAD |
Lymphopenia | 0.002638474 | 2 | 0 | BeFree_GAD |
Chronic Lymphocytic Leukemia | 0.002367032 | 1 | 0 | GAD |
Chronic Obstructive Airway Disease | 0.002367032 | 1 | 0 | GAD |
Mouth Neoplasms | 0.002367032 | 1 | 0 | GAD |
Multiple Myeloma | 0.002367032 | 1 | 0 | GAD |
Precancerous Conditions | 0.002367032 | 1 | 0 | GAD |
Diffuse Large B-Cell Lymphoma | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of lung | 0.002367032 | 1 | 0 | GAD |
Colitis | 0.002171535 | 8 | 0 | BeFree |
Precursor B-cell lymphoblastic leukemia | 0.001900093 | 7 | 0 | BeFree |
Acute lymphocytic leukemia | 0.001085767 | 4 | 0 | BeFree |
Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.001085767 | 4 | 0 | BeFree |
leukemia | 0.000814326 | 3 | 0 | BeFree |
Lymphoma | 0.000814326 | 3 | 0 | BeFree |
Asthma | 0.000542884 | 2 | 0 | BeFree |
Common Variable Immunodeficiency | 0.000542884 | 2 | 0 | BeFree |
Cytomegalovirus Infections | 0.000542884 | 2 | 0 | BeFree |
Myocarditis | 0.000542884 | 2 | 0 | BeFree |
Opportunistic Infections | 0.000542884 | 2 | 1 | BeFree |
Combined immunodeficiency | 0.000542884 | 2 | 0 | BeFree |
Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
Severe combined immunodeficiency, atypical | 0.000542884 | 2 | 0 | BeFree |
Arteriosclerosis | 0.000271442 | 1 | 0 | BeFree |
Atherosclerosis | 0.000271442 | 1 | 0 | BeFree |
Burkitt Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
Celiac Disease | 0.000271442 | 1 | 0 | BeFree |
CNS disorder | 0.000271442 | 1 | 0 | BeFree |
Exfoliative dermatitis | 0.000271442 | 1 | 0 | BeFree |
Experimental Autoimmune Encephalomyelitis | 0.000271442 | 1 | 0 | BeFree |
Angioimmunoblastic Lymphadenopathy | 0.000271442 | 1 | 0 | BeFree |
Kidney Diseases | 0.000271442 | 1 | 0 | BeFree |
Lymphoid leukemia | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Lymphocytic, Acute, L1 | 0.000271442 | 1 | 0 | BeFree |
Lupus Erythematosus, Systemic | 0.000271442 | 1 | 0 | BeFree |
melanoma | 0.000271442 | 1 | 0 | BeFree |
Muscular Dystrophy | 0.000271442 | 1 | 0 | BeFree |
Mycoses | 0.000271442 | 1 | 0 | BeFree |
Nasal Polyps | 0.000271442 | 1 | 0 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Disorder of the optic nerve | 0.000271442 | 1 | 0 | BeFree |
Periodontitis | 0.000271442 | 1 | 0 | BeFree |
Plasmacytoma | 0.000271442 | 1 | 0 | BeFree |
Sialadenitis | 0.000271442 | 1 | 0 | BeFree |
Chagas Disease | 0.000271442 | 1 | 0 | BeFree |
Wiskott-Aldrich Syndrome | 0.000271442 | 1 | 0 | BeFree |
Precursor cell lymphoblastic lymphoma | 0.000271442 | 1 | 0 | BeFree |
T-Cell Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Synovial Cyst | 0.000271442 | 1 | 0 | BeFree |
Pyoderma Gangrenosum | 0.000271442 | 1 | 0 | BeFree |
Epstein-Barr Virus Infections | 0.000271442 | 1 | 0 | BeFree |
Complete atrioventricular block | 0.000271442 | 1 | 0 | BeFree |
Ki-1+ Anaplastic Large Cell Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Primary immune deficiency disorder | 0.000271442 | 1 | 0 | BeFree |
Chronic multifocal osteomyelitis | 0.000271442 | 1 | 0 | BeFree |
Humoral immune defect | 0.000271442 | 1 | 0 | BeFree |
Metabolic Syndrome X | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Colon Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Granulomatous disorder | 0.000271442 | 1 | 0 | BeFree |
Breast adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Asthma chronic | 0.000271442 | 1 | 0 | BeFree |
Stromal Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Myxoid cyst | 0.000271442 | 1 | 0 | BeFree |
T-lymphocyte immunodeficiency | 0.000271442 | 1 | 1 | BeFree |
Angiogenic Switch | 0.000271442 | 1 | 0 | BeFree |
Cold Ischemia | 0.000271442 | 1 | 0 | BeFree |
Immunoglobulin a deficiency 1 | 0.000271442 | 1 | 0 | BeFree |
Mechanical Allodynia | 0.000271442 | 1 | 0 | BeFree |
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