CR1 (complement C3b/C4b receptor 1 (Knops blood group))
- symbol:
- CR1
- locus group:
- protein-coding gene
- location:
- 1q32.2
- gene_family:
- Blood group antigens|CD molecules|Complement system
- alias symbol:
- CD35|KN
- alias name:
- None
- entrez id:
- 1378
- ensembl gene id:
- ENSG00000203710
- ucsc gene id:
- uc001hfx.4
- refseq accession:
- NM_000573
- hgnc_id:
- HGNC:2334
- approved reserved:
- 2001-06-22
CR1（补体受体1，也称为CD35）是一种重要的免疫调节蛋白，属于补体受体家族。它主要表达在红细胞、白细胞、肾小球足细胞等细胞表面，通过与补体成分C3b和C4b结合，参与补体系统的调控，帮助清除免疫复合物和病原体。CR1的功能包括促进补体介导的吞噬作用、抑制补体过度激活以防止自身免疫损伤，并参与免疫复合物的转运和清除。CR1的突变可能导致功能异常，与某些自身免疫性疾病（如系统性红斑狼疮）和感染易感性增加相关。CR1基因的某些多态性（如HindIII多态性）与阿尔茨海默病的风险有关，可能通过影响β-淀粉样蛋白的清除发挥作用。CR1过表达可能增强补体调控能力，但过度抑制补体激活可能增加感染风险；而CR1表达降低可能导致补体系统失调，引发炎症或自身免疫反应。CR1属于补体受体家族（包括CR2、CR3、CR4等），这些成员均参与补体介导的免疫反应，但各自结合的补体成分和功能有所不同。该家族的共性是通过与补体蛋白相互作用调节免疫和炎症反应，维持免疫稳态。
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]
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]
基因本体信息
CR1基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
CR1基因的本体（GO）信息：
| 名称 |
|---|
| 4640 Hematopoietic cell lineage [PATH:hsa04640] |
| 4610 Complement and coagulation cascades [PATH:hsa04610] |
| 5134 Legionellosis [PATH:hsa05134] |
| 5152 Tuberculosis [PATH:hsa05152] |
| 5144 Malaria [PATH:hsa05144] |
| 5140 Leishmaniasis [PATH:hsa05140] |
| 名称 |
|---|
| Complement cascade |
| Immune System |
| Innate Immune System |
| Regulation of Complement cascade |
| 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 |
| Tuberculosis, Pulmonary | 0.00272435 | 1 | 0 | LHGDN |
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