MTOR(哺乳动物雷帕霉素靶蛋白)基因编码一种丝氨酸/苏氨酸蛋白激酶,属于PI3K相关激酶(PIKK)家族,在细胞生长、增殖、代谢和自噬等关键生物学过程中发挥核心调控作用。MTOR蛋白可形成两种不同的复合物:MTORC1和MTORC2。MTORC1主要响应营养、能量和生长因子信号,通过磷酸化下游靶点如S6K1和4E-BP1来促进蛋白质合成、脂质合成及抑制自噬;而MTORC2则参与细胞骨架重组和存活信号传导,通过激活AKT等分子影响胰岛素信号通路。该基因突变可能导致功能异常,与多种疾病密切相关:激活突变常见于癌症(如肾细胞癌、乳腺癌),因其持续促进细胞增殖;而失活突变则可能引发神经发育障碍或代谢性疾病。MTOR基因过表达会增强细胞增殖和存活能力,但可能导致肿瘤发生或胰岛素抵抗;表达降低则可能诱发自噬过度或细胞生长停滞。该基因属于PIKK家族,该家族成员均具有激酶活性并参与DNA损伤修复、代谢调控等保守功能。雷帕霉素等MTOR抑制剂已被开发为抗癌和免疫抑制药物,但需注意长期抑制可能引发代谢副作用。由于MTOR通路整合多种环境信号,其功能研究对理解衰老、癌症和代谢综合征等复杂生理病理过程具有重要意义。
The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Sep 2008]
由该基因编码的蛋白质属于家庭磷脂激酶相关的激酶。这些激酶介导如DNA损伤和营养剥夺应力细胞反应。该蛋白质作为靶的细胞周期停滞和FKBP12雷帕霉素复合物的免疫抑制作用。该ANGPTL7基因位于该基因的内含子。 [由RefSeq的,2008年9月提供]
MTOR基因(以及对应的蛋白质)的细胞分布位置:
MTOR基因的本体(GO)信息:
| 名称 |
|---|
| 4012 ErbB signaling pathway [PATH:hsa04012] |
| 4066 HIF-1 signaling pathway [PATH:hsa04066] |
| 4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
| 4152 AMPK signaling pathway [PATH:hsa04152] |
| 4150 mTOR signaling pathway [PATH:hsa04150] |
| 4910 Insulin signaling pathway [PATH:hsa04910] |
| 4920 Adipocytokine signaling pathway [PATH:hsa04920] |
| 4919 Thyroid hormone signaling pathway [PATH:hsa04919] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5230 Central carbon metabolism in cancer [PATH:hsa05230] |
| 5231 Choline metabolism in cancer [PATH:hsa05231] |
| 5206 MicroRNAs in cancer [PATH:hsa05206] |
| 5205 Proteoglycans in cancer [PATH:hsa05205] |
| 5214 Glioma [PATH:hsa05214] |
| 5221 Acute myeloid leukemia [PATH:hsa05221] |
| 5215 Prostate cancer [PATH:hsa05215] |
| 4930 Type II diabetes mellitus [PATH:hsa04930] |
| 名称 |
|---|
| Adaptive Immune System |
| CD28 co-stimulation |
| CD28 dependent PI3K/Akt signaling |
| Cellular response to heat stress |
| Cellular responses to stress |
| Constitutive Signaling by AKT1 E17K in Cancer |
| Costimulation by the CD28 family |
| DAP12 interactions |
| DAP12 signaling |
| Disease |
| Diseases of signal transduction |
| Downstream signal transduction |
| Downstream signaling events of B Cell Receptor (BCR) |
| Downstream signaling of activated FGFR1 |
| Downstream signaling of activated FGFR2 |
| Downstream signaling of activated FGFR3 |
| Downstream signaling of activated FGFR4 |
| Energy dependent regulation of mTOR by LKB1-AMPK |
| Fc epsilon receptor (FCERI) signaling |
| GAB1 signalosome |
| Gene Expression |
| Generic Transcription Pathway |
| HSF1-dependent transactivation |
| IGF1R signaling cascade |
| Immune System |
| Innate Immune System |
| Insulin receptor signalling cascade |
| IRS-mediated signalling |
| IRS-related events |
| IRS-related events triggered by IGF1R |
| mTOR signalling |
| mTORC1-mediated signalling |
| NGF signalling via TRKA from the plasma membrane |
| PI-3K cascade:FGFR1 |
| PI-3K cascade:FGFR2 |
| PI-3K cascade:FGFR3 |
| PI-3K cascade:FGFR4 |
| PI3K Cascade |
| PI3K events in ERBB2 signaling |
| PI3K events in ERBB4 signaling |
| PI3K/AKT activation |
| PI3K/AKT Signaling in Cancer |
| PIP3 activates AKT signaling |
| PKB-mediated events |
| Regulation of AMPK activity via LKB1 |
| Regulation of Rheb GTPase activity by AMPK |
| Release of eIF4E |
| Role of LAT2/NTAL/LAB on calcium mobilization |
| S6K1-mediated signalling |
| Signaling by EGFR |
| Signaling by ERBB2 |
| Signaling by ERBB4 |
| Signaling by FGFR |
| Signaling by FGFR1 |
| Signaling by FGFR2 |
| Signaling by FGFR3 |
| Signaling by FGFR4 |
| Signaling by Insulin receptor |
| Signaling by PDGF |
| Signaling by SCF-KIT |
| Signaling by the B Cell Receptor (BCR) |
| Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) |
| Signaling by VEGF |
| Signalling by NGF |
| TP53 Regulates Metabolic Genes |
| Transcriptional Regulation by TP53 |
| VEGFA-VEGFR2 Pathway |
| VEGFR2 mediated vascular permeability |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Schizophrenia | 0.2 | 2 | 0 | CTD_human_RGD |
| Left Ventricular Hypertrophy | 0.2 | 2 | 0 | CTD_human_RGD |
| Hypertensive disease | 0.2 | 2 | 0 | CTD_human_RGD |
| Liver carcinoma | 0.130606096 | 22 | 0 | BeFree_CTD_human_LHGDN |
| Renal Cell Carcinoma | 0.129781839 | 27 | 0 | BeFree_CTD_human_LHGDN |
| ovarian neoplasm | 0.1254487 | 3 | 0 | CTD_human_LHGDN |
| Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | 0.124895885 | 8 | 0 | BeFree_CTD_human_LHGDN |
| Adenocarcinoma | 0.123538676 | 5 | 0 | BeFree_CTD_human_LHGDN |
| Mesothelioma | 0.122995792 | 2 | 0 | BeFree_CTD_human_LHGDN |
| Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.120814326 | 4 | 0 | BeFree_CTD_human |
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