CCNE1 (cyclin E1)
- symbol:
- CCNE1
- locus group:
- protein-coding gene
- location:
- 19q12
- gene_family:
- Cyclins
- alias symbol:
- None
- alias name:
- cyclin Es|cyclin Et
- entrez id:
- 898
- ensembl gene id:
- ENSG00000105173
- ucsc gene id:
- uc002nsn.4
- refseq accession:
- NM_001238
- hgnc_id:
- HGNC:1589
- approved reserved:
- 1991-12-10
CCNE1（Cyclin E1）是细胞周期蛋白家族（Cyclin家族）的重要成员，其编码的Cyclin E1蛋白与CDK2（周期蛋白依赖性激酶2）结合形成复合物，共同调控细胞周期从G1期向S期的过渡（即G1/S检查点），驱动DNA复制的启动。该基因的主要作用位点是细胞核，通过磷酸化视网膜母细胞瘤蛋白（Rb）等底物，释放E2F转录因子，激活S期相关基因的表达。CCNE1的突变或扩增会导致其蛋白稳定性异常或表达水平升高，破坏细胞周期检查点，常见于多种癌症（如乳腺癌、卵巢癌、子宫内膜癌），与肿瘤侵袭性增强和预后不良相关。若CCNE1过表达，会加速G1/S转换，导致基因组不稳定和异常增殖；而敲低或抑制其表达则可能引发细胞周期阻滞。Cyclin家族（包括Cyclin A、B、D等）的共性是通过与CDK结合调控细胞周期不同阶段，其活性受泛素-蛋白酶体系统（如SCF复合物）的降解调控。CCNE1的异常表达还可能影响其他周期蛋白（如Cyclin D1）的功能，并干扰CDK抑制剂（如p21、p27）的作用。此外，CCNE1在干细胞维持和端粒酶激活中也有潜在作用，其过度激活与化疗耐药性相关。目前针对CCNE1-CDK2复合物的抑制剂（如PF-07104091）正在临床试验中用于癌症治疗。
The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2, whose activity is required for cell cycle G1/S transition. This protein accumulates at the G1-S phase boundary and is degraded as cells progress through S phase. Overexpression of this gene has been observed in many tumors, which results in chromosome instability, and thus may contribute to tumorigenesis. This protein was found to associate with, and be involved in, the phosphorylation of NPAT protein (nuclear protein mapped to the ATM locus), which participates in cell-cycle regulated histone gene expression and plays a critical role in promoting cell-cycle progression in the absence of pRB. Two alternatively spliced transcript variants of this gene, which encode distinct isoforms, have been described. Two additional splice variants were reported but detailed nucleotide sequence information is not yet available. [provided by RefSeq, Jul 2008]
由该基因编码的蛋白质属于高度保守的细胞周期蛋白家族，其成员通过细胞周期的特征是急剧周期性的蛋白质丰度。细胞周期蛋白作为CDK激酶的监管。不同细胞周期蛋白表现出不同的表达和降解模式这有助于每个有丝分裂事件的时间协调。这个周期蛋白形成具有复杂的并用作CDK2的调节亚基，其活性所需的细胞周期G1 / S期转换。这种蛋白质聚集在G1-S相界和细胞通过S期的进展被降解。该基因的过表达已在许多肿瘤中，这导致在染色体的不稳定性，并且因此可以有助于肿瘤被观察到。这种蛋白质被发现与相关联，并参与，NPAT蛋白（映射到ATM轨迹核蛋白），其参与细胞周期调节蛋白的基因表达和在促进细胞周期进程中起关键作用的磷酸化没有PRB中的。两个这种基因的可变剪接转录物变体，其编码不同同种型，进行了描述。据报道两个附加的剪接变体，但详细的碱基序列信息是尚未公布。 [由RefSeq的，2008年7月提供]
基因本体信息
CCNE1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
CCNE1基因的本体（GO）信息：
| 名称 |
|---|
| 4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
| 4110 Cell cycle [PATH:hsa04110] |
| 4114 Oocyte meiosis [PATH:hsa04114] |
| 4115 p53 signaling pathway [PATH:hsa04115] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5206 MicroRNAs in cancer [PATH:hsa05206] |
| 5203 Viral carcinogenesis [PATH:hsa05203] |
| 5215 Prostate cancer [PATH:hsa05215] |
| 5222 Small cell lung cancer [PATH:hsa05222] |
| 5162 Measles [PATH:hsa05162] |
| 5161 Hepatitis B [PATH:hsa05161] |
| 名称 |
|---|
| Cell Cycle |
| Cell Cycle Checkpoints |
| Cell Cycle, Mitotic |
| Cellular responses to stress |
| Cellular Senescence |
| Cyclin A:Cdk2-associated events at S phase entry |
| Cyclin E associated events during G1/S transition |
| DNA Damage/Telomere Stress Induced Senescence |
| E2F mediated regulation of DNA replication |
| G0 and Early G1 |
| G1/S DNA Damage Checkpoints |
| G1/S Transition |
| G1/S-Specific Transcription |
| Mitotic G1-G1/S phases |
| p53-Dependent G1 DNA Damage Response |
| p53-Dependent G1/S DNA damage checkpoint |
| Phosphorylation of proteins involved in G1/S transition by active Cyclin E:Cdk2 complexes |
| S Phase |
| SCF(Skp2)-mediated degradation of p27/p21 |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Liver carcinoma | 0.203810118 | 8 | 0 | BeFree_CTD_human_LHGDN_RGD |
| ovarian neoplasm | 0.2 | 2 | 0 | CTD_human_RGD |
| Mammary Neoplasms | 0.136617543 | 9 | 0 | BeFree_CTD_human_LHGDN |
| Medulloblastoma | 0.12 | 1 | 0 | CTD_human |
| Disease Progression | 0.12 | 1 | 0 | CTD_human |
| Bladder Neoplasm | 0.12 | 1 | 0 | CTD_human |
| Diabetic Nephropathy | 0.082367032 | 1 | 1 | GAD_RGD |
| Reperfusion Injury | 0.08 | 1 | 0 | RGD |
| Colonic Neoplasms | 0.08 | 1 | 0 | RGD |
| Hypertensive disease | 0.08 | 1 | 0 | RGD |
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