更多...
收起
This gene is a member of the receptors of complement activation (RCA) family and is located in the 'cluster RCA' region of chromosome 1. The gene encodes a monomeric single-pass type I membrane glycoprotein found on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells. The Knops blood group system is a system of antigens located on this protein. The protein mediates cellular binding to particles and immune complexes that have activated complement. Decreases in expression of this protein and/or mutations in its gene have been associated with gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus and sarcoidosis. Mutations in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria. Alternate allele-specific splice variants, encoding different isoforms, have been characterized. Additional allele specific isoforms, including a secreted form, have been described but have not been fully characterized. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因是补体激活(RCA)家族的受体的成员,并且是存放在“簇的RCA”1号染色体的区域的基因编码我膜糖蛋白上红细胞发现单体单通型,白细胞,肾小球足细胞,脾滤泡树突状细胞。突起部血型系统是位于该蛋白抗原系统。蛋白质介导的细胞结合的颗粒与已激活的补体免疫复合物。减小在其基因已与胆囊癌,mesangiocapillary肾小球肾炎,系统性红斑狼疮和结节病相关的这种蛋白质和/或突变的表达。在这个基因的突变也与恶性疟原虫玫瑰花结的降低相关联,赋予针对重症疟疾的保护。备用等位基因特异性剪接变体,编码不同同种型,已经表征。额外等位基因特异性同种型,包括一种分泌的形式,已经描述了,但还没有被完全表征。 [由RefSeq的,2008年7月提供]
CR1基因(以及对应的蛋白质)的细胞分布位置:
CR1基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Alzheimer's Disease | 0.261846172 | 12 | 5 | BeFree_CTD_human_GAD_GWASCAT |
| Malaria, Falciparum | 0.12554839 | 6 | 0 | BeFree_CTD_human_GAD |
| Malaria | 0.124267125 | 8 | 4 | BeFree_CTD_human_GAD |
| Lupus Erythematosus, Systemic | 0.030909493 | 20 | 0 | BeFree_GAD_LHGDN |
| Malaria, Cerebral | 0.01036833 | 4 | 0 | BeFree_GAD_LHGDN |
| Pulmonary Fibrosis | 0.007101096 | 3 | 0 | GAD |
| Sarcoidosis | 0.005905708 | 3 | 0 | BeFree_GAD_LHGDN |
| Hepatitis C, Chronic | 0.005276948 | 4 | 0 | BeFree_GAD |
| Autoimmune hemolytic anemia | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| alpha-Thalassemia | 0.00272435 | 1 | 0 | LHGDN |
| Pneumonia, Bacterial | 0.00272435 | 1 | 0 | LHGDN |
| Neoplasm Metastasis | 0.00272435 | 1 | 0 | LHGDN |
| Tuberculosis, Pulmonary | 0.00272435 | 1 | 0 | LHGDN |
| Cardiovascular Diseases | 0.002638474 | 1 | 0 | BeFree_GAD |
| Diabetes Mellitus, Insulin-Dependent | 0.002638474 | 1 | 0 | BeFree_GAD |
| Kidney Failure, Chronic | 0.002638474 | 1 | 0 | BeFree_GAD |
| Idiopathic Pulmonary Fibrosis | 0.002638474 | 2 | 0 | BeFree_GAD |
| Malignant neoplasm of urinary bladder | 0.002367032 | 1 | 0 | GAD |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.002367032 | 1 | 0 | GAD |
| Hypertensive disease | 0.002367032 | 1 | 0 | GAD |
| Kidney Diseases | 0.002367032 | 1 | 0 | GAD |
| Lymphoma, Non-Hodgkin | 0.002367032 | 1 | 0 | GAD |
| Myocardial Infarction | 0.002367032 | 1 | 0 | GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Tuberculosis | 0.002367032 | 1 | 0 | GAD |
| Age related macular degeneration | 0.002367032 | 1 | 0 | GAD |
| Complications of Diabetes Mellitus | 0.002367032 | 1 | 0 | GAD |
| Lupus Erythematosus | 0.002367032 | 1 | 0 | GAD |
| Maduromycosis | 0.002367032 | 1 | 0 | GAD |
| Rheumatoid Arthritis | 0.000542884 | 2 | 0 | BeFree |
| HIV Infections | 0.000542884 | 2 | 0 | BeFree |
| Leukemia, Myelocytic, Acute | 0.000542884 | 2 | 0 | BeFree |
| Liver diseases | 0.000542884 | 2 | 0 | BeFree |
| Arteriosclerosis | 0.000271442 | 1 | 0 | BeFree |
| Arthus Reaction | 0.000271442 | 1 | 0 | BeFree |
| Asthma | 0.000271442 | 1 | 0 | BeFree |
| Atherosclerosis | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
| Glomerulonephritis | 0.000271442 | 1 | 0 | BeFree |
| Hepatitis | 0.000271442 | 1 | 0 | BeFree |
| Hepatitis A | 0.000271442 | 1 | 0 | BeFree |
| Hepatitis, Chronic | 0.000271442 | 1 | 0 | BeFree |
| leukemia | 0.000271442 | 1 | 0 | BeFree |
| Liver Cirrhosis | 0.000271442 | 1 | 0 | BeFree |
| Paroxysmal nocturnal hemoglobinuria | 0.000271442 | 1 | 0 | BeFree |
| melanoma | 0.000271442 | 1 | 0 | BeFree |
| X-linked agammaglobulinemia | 0.000271442 | 1 | 0 | BeFree |
| proliferative nephritis unspecified | 0.000271442 | 1 | 0 | BeFree |
| Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Spondylarthropathies | 0.000271442 | 1 | 0 | BeFree |
| Severe Acute Respiratory Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Atypical Hemolytic Uremic Syndrome | 0.000271442 | 1 | 0 | BeFree |
忘记密码? 点击找回密码.
扫一扫右方二维码,关注微信订阅号,实时查看信息,关注医学生物学动态。