RICTOR (RPTOR independent companion of MTOR complex 2)
- symbol:
- RICTOR
- locus group:
- protein-coding gene
- location:
- 5p13.1
- gene_family:
- alias symbol:
- MGC39830|AVO3|PIA|KIAA1999
- alias name:
- rapamycin-insensitive companion of…
- entrez id:
- 253260
- ensembl gene id:
- ENSG00000164327
- ucsc gene id:
- uc003jlp.4
- refseq accession:
- NM_152756
- hgnc_id:
- HGNC:28611
- approved reserved:
- 2009-05-29
RICTOR（rapamycin-insensitive companion of mTOR）是mTORC2（哺乳动物雷帕霉素靶蛋白复合物2）的核心组成部分，属于PI3K相关激酶（PIK-related kinase）家族。这个基因家族的特点是参与细胞生长、代谢和存活等关键信号通路的调控。RICTOR与mTOR、mLST8等蛋白结合形成mTORC2复合物，主要功能是通过磷酸化AGC激酶家族成员（如AKT、PKC和SGK1）调控细胞存活、增殖、代谢和细胞骨架重组。RICTOR在多种组织中广泛表达，尤其在代谢活跃的组织如肌肉、肝脏和脂肪中表达较高。它的主要作用位点包括细胞膜、线粒体和细胞质，通过调控AKT的Ser473位点磷酸化增强其活性，进而影响下游信号通路如葡萄糖代谢和细胞凋亡。RICTOR的突变或表达异常与多种疾病相关，包括癌症、糖尿病和神经退行性疾病。在癌症中，RICTOR过表达常见于乳腺癌、前列腺癌和胶质母细胞瘤等，促进肿瘤细胞存活、侵袭和转移；而RICTOR表达降低可能抑制肿瘤生长但也会影响正常组织的代谢功能。RICTOR的缺失或功能丧失突变可能导致代谢紊乱、胰岛素抵抗和免疫缺陷。在神经系统中，RICTOR表达异常与阿尔茨海默病和帕金森病等神经退行性疾病相关。RICTOR作为mTORC2的核心，其表达水平变化会影响整个mTOR信号网络的平衡，过表达可能增强细胞增殖和存活信号，而降低表达则可能导致代谢失调和细胞凋亡增加。此外，RICTOR还参与调控其他基因如HIF-1α和FOXO1的表达，影响缺氧反应和氧化应激应答。RICTOR所在的mTOR信号通路是细胞生长和代谢的核心调控网络，其功能复杂且与多种生理和病理过程密切相关。
RICTOR and MTOR (FRAP1; MIM 601231) are components of a protein complex that integrates nutrient- and growth factor-derived signals to regulate cell growth (Sarbassov et al., 2004 [PubMed 15268862]).[supplied by OMIM, Mar 2008]
Rictor的和MTOR（FRAP1; MIM 601231）是集成营养和生长因子衍生的信号，以调节细胞生长的蛋白复合物的组分（Sarbassov等，2004 [搜索PubMed 15268862]）[由OMIM供给，2008年3月]
基因本体信息
RICTOR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
RICTOR基因的本体（GO）信息：
| 名称 |
|---|
| 4150 mTOR signaling pathway [PATH:hsa04150] |
| 名称 |
|---|
| Adaptive Immune System |
| CD28 co-stimulation |
| CD28 dependent PI3K/Akt signaling |
| 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 |
| Fc epsilon receptor (FCERI) signaling |
| GAB1 signalosome |
| Immune System |
| Innate Immune System |
| 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 events in ERBB2 signaling |
| PI3K events in ERBB4 signaling |
| PI3K/AKT activation |
| PI3K/AKT Signaling in Cancer |
| PIP3 activates AKT signaling |
| Role of LAT2/NTAL/LAB on calcium mobilization |
| 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 PDGF |
| Signaling by SCF-KIT |
| Signaling by the B Cell Receptor (BCR) |
| Signaling by VEGF |
| Signalling by NGF |
| VEGFA-VEGFR2 Pathway |
| VEGFR2 mediated vascular permeability |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Obesity | 0.12 | 1 | 1 | GWASCAT |
| Infection | 0.00272435 | 1 | 0 | LHGDN |
| Glioma | 0.00272435 | 1 | 0 | LHGDN |
| Head and Neck Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Neoplasms, Second Primary | 0.002367032 | 1 | 0 | GAD |
| Neoplasm Recurrence, Local | 0.002367032 | 1 | 0 | GAD |
| Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
| Benign Prostatic Hyperplasia | 0.000271442 | 1 | 0 | BeFree |
| Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
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