CDC6 (cell division cycle 6)
- symbol:
- CDC6
- locus group:
- protein-coding gene
- location:
- 17q21.2
- gene_family:
- alias symbol:
- None
- alias name:
- None
- entrez id:
- 990
- ensembl gene id:
- ENSG00000094804
- ucsc gene id:
- uc002huj.2
- refseq accession:
- NM_001254
- hgnc_id:
- HGNC:1744
- approved reserved:
- 1999-08-06
CDC6（Cell Division Cycle 6）是一个关键的细胞周期调控基因，属于DNA复制起始复合物（pre-replicative complex, pre-RC）的组成部分，主要功能是确保DNA在细胞分裂前正确复制一次。它在细胞周期的G1期（细胞生长阶段）表达，与ORC（起源识别复合物）、MCM（微小染色体维持蛋白）等蛋白共同结合到DNA复制起始位点（复制起点），启动DNA复制。CDC6的生物学特点是其表达水平受细胞周期严格调控，通常在S期（DNA合成期）后被降解，以防止DNA重复复制。CDC6的作用位点主要在细胞核内，参与染色质的组装和复制许可（licensing）过程。若CDC6发生功能丧失性突变，会导致DNA复制起始失败，引发细胞周期停滞或基因组不稳定性；而功能获得性突变可能引起过度复制，导致多倍体或癌症。CDC6的异常表达与多种癌症（如乳腺癌、结直肠癌）相关，其过表达可能促进肿瘤细胞增殖和基因组不稳定性。当CDC6过表达时，可能破坏复制许可控制，导致DNA重复复制和染色体异常；而降低表达则可能抑制细胞增殖，引发复制压力或细胞衰老。CDC6属于CDC6/MCM基因家族，该家族成员均参与DNA复制起始和细胞周期调控，共性包括保守的AAA+ ATP酶结构域（一种能量依赖的蛋白功能调节区域）和与复制起点结合的能力。在癌症治疗中，CDC6被视为潜在靶点，抑制其功能可能选择性阻断肿瘤细胞增殖。术语解释：复制许可是指细胞在G1期标记DNA复制起点以备S期使用的过程；AAA+ ATP酶是一种利用ATP能量驱动构象变化的蛋白模块。
The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc6, a protein essential for the initiation of DNA replication. This protein functions as a regulator at the early steps of DNA replication. It localizes in cell nucleus during cell cyle G1, but translocates to the cytoplasm at the start of S phase. The subcellular translocation of this protein during cell cyle is regulated through its phosphorylation by Cdks. Transcription of this protein was reported to be regulated in response to mitogenic signals through transcriptional control mechanism involving E2F proteins. [provided by RefSeq, Jul 2008]
由该基因编码的蛋白质是高度类似于酿酒酵母的Cdc6，DNA复制的起始所必需的蛋白质。该蛋白质作为在DNA复制的早期步骤的调节器。它细胞cyle G1期间本地化在细胞核，但在S期的开始转运至细胞质中。这种蛋白质的细胞cyle在亚细胞易位通过由的Cdks其磷酸化调节。据报道这种蛋白质转录的通过涉及E2F蛋白转录调控机制，应对有丝分裂信号加以规范。 [由RefSeq的，2008年7月提供]
基因本体信息
CDC6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
CDC6基因的本体（GO）信息：
| 名称 |
|---|
| 4110 Cell cycle [PATH:hsa04110] |
| 名称 |
|---|
| Activation of ATR in response to replication stress |
| Activation of the pre-replicative complex |
| Assembly of the pre-replicative complex |
| Association of licensing factors with the pre-replicative complex |
| CDC6 association with the ORC:origin complex |
| CDK-mediated phosphorylation and removal of Cdc6 |
| CDT1 association with the CDC6:ORC:origin complex |
| Cell Cycle |
| Cell Cycle Checkpoints |
| Cell Cycle, Mitotic |
| DNA Replication |
| DNA Replication Pre-Initiation |
| E2F mediated regulation of DNA replication |
| G0 and Early G1 |
| G1/S Transition |
| G1/S-Specific Transcription |
| G2/M Checkpoints |
| M/G1 Transition |
| Mitotic G1-G1/S phases |
| Orc1 removal from chromatin |
| Regulation of DNA replication |
| Removal of licensing factors from origins |
| S Phase |
| Switching of origins to a post-replicative state |
| Synthesis of DNA |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| EAR, PATELLA, SHORT STATURE SYNDROME | 0.240542884 | 3 | 0 | BeFree_CTD_human_ORPHANET |
| MEIER-GORLIN SYNDROME 5 | 0.24 | 1 | 1 | CLINVAR_UNIPROT |
| Peripheral Neuropathy | 0.12 | 1 | 0 | CTD_human |
| Polycystic Ovary Syndrome | 0.12 | 1 | 0 | CTD_human |
| Liver carcinoma | 0.008001298 | 2 | 1 | BeFree_GAD_LHGDN |
| Prostatic Neoplasms | 0.0054487 | 2 | 0 | LHGDN |
| Liver neoplasms | 0.004734064 | 2 | 0 | GAD |
| Squamous cell carcinoma | 0.002995792 | 1 | 0 | BeFree_LHGDN |
| Lymphoma, Non-Hodgkin | 0.002638474 | 1 | 1 | BeFree_GAD |
| Uterine Cervical Neoplasm | 0.002367032 | 1 | 0 | GAD |
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