FOXO1 (forkhead box O1)
- symbol:
- FOXO1
- locus group:
- protein-coding gene
- location:
- 13q14.11
- gene_family:
- Forkhead boxes
- alias symbol:
- FKH1
- alias name:
- None
- entrez id:
- 2308
- ensembl gene id:
- ENSG00000150907
- ucsc gene id:
- uc001uxl.5
- refseq accession:
- NM_002015
- hgnc_id:
- HGNC:3819
- approved reserved:
- 1994-01-07
FOXO1（Forkhead box protein O1）属于FOXO基因家族，该家族还包括FOXO3、FOXO4和FOXO6。FOXO家族成员是转录因子，具有保守的Forkhead DNA结合域，主要调控细胞周期、凋亡、代谢、氧化应激反应和寿命等生物学过程。FOXO1在多种组织中表达，尤其在肝脏、脂肪组织和胰腺中发挥重要作用。它通过结合特定DNA序列调控下游靶基因的表达，参与葡萄糖代谢、脂质代谢和胰岛素信号通路。在葡萄糖代谢中，FOXO1促进肝糖异生相关基因（如G6PC和PCK1）的表达，增加血糖水平。在脂代谢中，它调控脂蛋白脂肪酶（LPL）和极低密度脂蛋白（VLDL）的合成。FOXO1还参与细胞凋亡和自噬，通过上调促凋亡基因（如BIM和FASL）抑制细胞增殖。突变或异常调控FOXO1会导致功能紊乱，例如功能获得性突变可能引起过度糖异生，导致糖尿病；而功能缺失性突变可能减少细胞凋亡，增加癌症风险。FOXO1的活性受PI3K-AKT信号通路调控，AKT磷酸化FOXO1使其从细胞核转位至胞质并失活。胰岛素通过该通路抑制FOXO1，减少糖异生。如果FOXO1过表达，可能增加肝糖输出，导致高血糖和胰岛素抵抗，与2型糖尿病相关；还可能促进肿瘤细胞凋亡，抑制肿瘤生长。降低FOXO1表达则可能减少糖异生，改善血糖控制，但可能削弱细胞应激反应和凋亡能力，增加癌症风险。FOXO1与多种疾病相关，包括糖尿病、肥胖、癌症和心血管疾病。在癌症中，FOXO1的抑制或失活常见于某些肿瘤，如前列腺癌和白血病，而它的过度激活可能抑制肿瘤生长。FOXO家族成员的共性是参与应激响应、代谢调控和寿命延长，通过相似机制调控靶基因，但在组织分布和具体功能上有所差异。FOXO1的调控在代谢性疾病和癌症治疗中具有潜在应用价值。
This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in myogenic growth and differentiation. Translocation of this gene with PAX3 has been associated with alveolar rhabdomyosarcoma. [provided by RefSeq, Jul 2008]
该基因属于叉头家族的转录因子的特征在于独特的叉头域。该基因的具体功能尚未确定;然而，它可能在肌生长和分化的作用。该基因与PAX3的易位已与腺泡型横纹肌肉瘤有关。 [由RefSeq的，2008年7月提供]
基因本体信息
FOXO1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
FOXO1基因的本体（GO）信息：
| 名称 |
|---|
| 4068 FoxO signaling pathway [PATH:hsa04068] |
| 4152 AMPK signaling pathway [PATH:hsa04152] |
| 4910 Insulin signaling pathway [PATH:hsa04910] |
| 4922 Glucagon signaling pathway [PATH:hsa04922] |
| 4919 Thyroid hormone signaling pathway [PATH:hsa04919] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5202 Transcriptional misregulation in cancers [PATH:hsa05202] |
| 5215 Prostate cancer [PATH:hsa05215] |
| 名称 |
|---|
| Adaptive Immune System |
| AKT phosphorylates targets in the nucleus |
| AKT-mediated inactivation of FOXO1A |
| Constitutive Signaling by AKT1 E17K in Cancer |
| DAP12 interactions |
| DAP12 signaling |
| Developmental Biology |
| 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 |
| Regulation of beta-cell development |
| Regulation of gene expression in beta cells |
| Role of LAT2/NTAL/LAB on calcium mobilization |
| Signal Transduction |
| 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) |
| Signalling by NGF |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Alveolar rhabdomyosarcoma | 0.285933266 | 111 | 0 | BeFree_CTD_human_LHGDN_ORPHANET |
| Leukemia, Myelocytic, Acute | 0.122995792 | 3 | 0 | BeFree_CTD_human_LHGDN |
| Keratoconus | 0.120814326 | 3 | 7 | BeFree_CTD_human |
| Insulin Resistance | 0.08 | 1 | 0 | RGD |
| Rhabdomyosarcoma | 0.023645237 | 58 | 0 | BeFree_LHGDN |
| Prostatic Neoplasms | 0.013621751 | 5 | 0 | LHGDN |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.011639663 | 9 | 0 | BeFree_GAD |
| Rhabdomyosarcoma, Embryonal | 0.008434561 | 12 | 0 | BeFree_LHGDN |
| Carcinogenesis | 0.005971721 | 22 | 0 | BeFree |
| Endometrial Neoplasms | 0.0054487 | 2 | 0 | LHGDN |
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