This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
该基因编码的Ras相关GTP酶亚家族的一个成员。所编码的蛋白质是参与调节有关细胞应激p38蛋白依赖性信号级联。这种蛋白质也与神经生长因子的合作,促进神经元的发育和再生。选择性剪接结果在多个抄本变形。 [由RefSeq的,2012年2月提供]
RIT1基因(以及对应的蛋白质)的细胞分布位置:
RIT1基因的本体(GO)信息:
名称 |
---|
NGF signalling via TRKA from the plasma membrane |
Signalling by NGF |
Signalling to ERKs |
Signalling to p38 via RIT and RIN |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
NOONAN SYNDROME 8 | 0.24 | 1 | 2 | CLINVAR_UNIPROT |
Noonan Syndrome | 0.120542884 | 2 | 0 | BeFree_ORPHANET |
Inflammatory Bowel Diseases | 0.12 | 1 | 1 | GWASCAT |
Liver carcinoma | 0.00272435 | 1 | 0 | LHGDN |
Conduct Disorder | 0.002367032 | 1 | 1 | GAD |
Malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
Congenital Heart Defects | 0.000271442 | 1 | 0 | BeFree |
Liver and Intrahepatic Biliary Tract Carcinoma | 0.000271442 | 1 | 0 | BeFree |
leukemia | 0.000271442 | 1 | 0 | BeFree |
Craniofacial Abnormalities | 0.000271442 | 1 | 0 | BeFree |
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