该基因是一个具有ras超家族鸟嘌呤核苷酸交换因子(gef)结构域的基因家族的成员。它作为一种二酰甘油(DAG)调节的核苷酸交换因子,通过GTP结合GDP的交换,特异性地激活Ras它激活Erk/MAP激酶级联,调节T细胞和B细胞的发育、稳态和分化另外,还发现了编码不同亚型的剪接转录变体。该蛋白不同亚型的表达改变可能是系统性红斑狼疮(sle)易感性的原因之一。[由RefSeq提供,2008年7月]
This gene is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP. It activates the Erk/MAP kinase cascade and regulates T-cells and B-cells development, homeostasis and differentiation. Alternatively spliced transcript variants encoding different isoforms have been identified. Altered expression of the different isoforms of this protein may be a cause of susceptibility to systemic lupus erythematosus (SLE). [provided by RefSeq, Jul 2008]
基因名: | RASGRP1 |
别名: | IMD64,RASGRP,CALDAG-GEFI,CALDAG-GEFII |
基因ID: | 10125 |
Chromosome: (GRCh37) | 15 Start: 38780302 End: 38857661 Strand: |
信号通路: |