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This gene encodes a human guanine nucleotide exchange factor. It transduces signals from CRK by binding the SH3 domain of CRK, and activating several members of the Ras family of GTPases. This signaling cascade that may be involved in apoptosis, integrin-mediated signal transduction, and cell transformation. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  这个基因编码人鸟嘌呤核苷酸交换因子。它通过结合CRK的SH3结构域,并激活Ras家族GTP酶的几名成员从转导的信号CRK。这个信号级联可能参与细胞凋亡,整合素介导的信号转导和细胞转化。这个基因的几种可变剪接转录物变体已有描述,但一些变体的全长性质尚未确定。 [由RefSeq的,2008年7月提供]
RAPGEF1基因(以及对应的蛋白质)的细胞分布位置:
RAPGEF1基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.005819831 | 5 | 6 | BeFree_GAD |
| Squamous cell carcinoma | 0.00272435 | 1 | 0 | LHGDN |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of stomach | 0.000271442 | 1 | 0 | BeFree |
| Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
| Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of gastrointestinal tract | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of ovary | 0.000271442 | 1 | 0 | BeFree |
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