E2F1 (E2F transcription factor 1)
- symbol:
- E2F1
- locus group:
- protein-coding gene
- location:
- 20q11.22
- gene_family:
- alias symbol:
- RBP3
- alias name:
- None
- entrez id:
- 1869
- ensembl gene id:
- ENSG00000101412
- ucsc gene id:
- uc002wzu.5
- refseq accession:
- NM_005225
- hgnc_id:
- HGNC:3113
- approved reserved:
- 1993-06-29
E2F1是E2F转录因子家族的重要成员之一，该家族包括E2F1至E2F8等多个基因，主要参与调控细胞周期进程、DNA复制、凋亡和分化等关键生物学过程。E2F家族基因的共同特点是它们通过结合特定的DNA序列（E2F响应元件）来激活或抑制下游靶基因的表达，从而协调细胞增殖与死亡的平衡。E2F1作为该家族中的典型代表，具有双重功能：在正常细胞中，它促进细胞周期G1/S期转换，驱动细胞进入DNA合成阶段；而在应激条件下（如DNA损伤），它可诱导细胞凋亡，防止异常增殖。E2F1的活性受视网膜母细胞瘤蛋白（Rb）调控，当Rb被磷酸化失活时，E2F1被释放并激活靶基因转录。E2F1突变或表达异常与多种疾病密切相关，尤其是癌症。例如，E2F1过表达常见于乳腺癌、肺癌和前列腺癌等恶性肿瘤中，可能导致细胞周期失控和无限增殖。相反，E2F1表达不足可能影响DNA损伤修复，增加基因组不稳定性。此外，E2F1还参与调控血管生成、代谢重编程和免疫应答等过程。在基因相互作用方面，E2F1过表达会激活CDK2、Cyclin E等细胞周期相关基因，同时抑制凋亡抑制因子如BCL-2；而E2F1表达降低则可能减弱p53介导的凋亡通路。值得注意的是，E2F家族成员功能存在冗余和拮抗，例如E2F1-3主要起转录激活作用，而E2F4-8更多表现为转录抑制。这种精细调控网络确保了细胞对内外环境变化的精确响应。
The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F2 and E2F3, have an additional cyclin binding domain. This protein binds preferentially to retinoblastoma protein pRB in a cell-cycle dependent manner. It can mediate both cell proliferation and p53-dependent/independent apoptosis. [provided by RefSeq, Jul 2008]
由该基因编码的蛋白质是E2F家族转录因子的成员。的E2F家族在肿瘤抑制蛋白的细胞周期和动作的控制的关键作用，也是小的DNA肿瘤病毒转化的蛋白质的靶。该E2F蛋白含有在家族的大部分成员发现了一些进化上保守结构域。这些领域包括DNA斌丁域，它确定与分化调节转录因子的蛋白质（DP），一个反式激活域酸性氨基酸富集的，并且被嵌入在激活域内的肿瘤抑制蛋白缔合结构域相互作用二聚化结构域。这种蛋白质和另外2名成员，E2F2和E2F3，有一个额外的细胞周期蛋白结合结构域。这种蛋白优先结合成视网膜细胞瘤蛋白的pRB在细胞周期依赖性。它可以同时介导细胞增殖和p53依赖/独立凋亡。 [由RefSeq的，2008年7月提供]
基因本体信息
E2F1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
E2F1基因的本体（GO）信息：
| 名称 |
|---|
| 4110 Cell cycle [PATH:hsa04110] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5206 MicroRNAs in cancer [PATH:hsa05206] |
| 5212 Pancreatic cancer [PATH:hsa05212] |
| 5214 Glioma [PATH:hsa05214] |
| 5220 Chronic myeloid leukemia [PATH:hsa05220] |
| 5218 Melanoma [PATH:hsa05218] |
| 5219 Bladder cancer [PATH:hsa05219] |
| 5215 Prostate cancer [PATH:hsa05215] |
| 5222 Small cell lung cancer [PATH:hsa05222] |
| 5223 Non-small cell lung cancer [PATH:hsa05223] |
| 5166 HTLV-I infection [PATH:hsa05166] |
| 5161 Hepatitis B [PATH:hsa05161] |
| 名称 |
|---|
| Activation of BH3-only proteins |
| Activation of NOXA and translocation to mitochondria |
| Activation of PUMA and translocation to mitochondria |
| Apoptosis |
| Assembly of the pre-replicative complex |
| Association of licensing factors with the pre-replicative complex |
| CDC6 association with the ORC:origin complex |
| Cell Cycle |
| Cell Cycle, Mitotic |
| Cellular responses to stress |
| Cellular Senescence |
| Cyclin D associated events in G1 |
| DNA Replication |
| DNA Replication Pre-Initiation |
| E2F mediated regulation of DNA replication |
| G0 and Early G1 |
| G1 Phase |
| G1/S Transition |
| G1/S-Specific Transcription |
| G2 Phase |
| Inhibition of replication initiation of damaged DNA by RB1/E2F1 |
| Intrinsic Pathway for Apoptosis |
| M/G1 Transition |
| Mitotic G1-G1/S phases |
| Mitotic G2-G2/M phases |
| Oncogene Induced Senescence |
| Oxidative Stress Induced Senescence |
| Pre-NOTCH Expression and Processing |
| Pre-NOTCH Transcription and Translation |
| Programmed Cell Death |
| Regulation of DNA replication |
| Signal Transduction |
| Signaling by NOTCH |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Mammary Neoplasms | 0.133893193 | 7 | 0 | BeFree_CTD_human_LHGDN |
| melanoma | 0.132516121 | 16 | 0 | BeFree_CTD_human_LHGDN |
| Liver carcinoma | 0.125971721 | 23 | 0 | BeFree_CTD_human |
| Huntington Disease | 0.08 | 1 | 0 | RGD |
| Sjogren's Syndrome | 0.08 | 0 | 0 | MGD |
| Diabetes Mellitus, Insulin-Dependent | 0.08 | 0 | 0 | MGD |
| Stomach Neoplasms | 0.008715934 | 4 | 0 | BeFree_LHGDN |
| Prostatic Neoplasms | 0.008444493 | 4 | 0 | BeFree_LHGDN |
| Retinoblastoma | 0.007871814 | 29 | 0 | BeFree |
| Carcinogenesis | 0.007057489 | 26 | 0 | BeFree |
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