CDK6 (cyclin dependent kinase 6)
- symbol:
- CDK6
- locus group:
- protein-coding gene
- location:
- 7q21.2
- gene_family:
- Cyclin-dependent kinases
- alias symbol:
- PLSTIRE
- alias name:
- None
- entrez id:
- 1021
- ensembl gene id:
- ENSG00000105810
- ucsc gene id:
- uc011khw.2
- refseq accession:
- NM_001145306
- hgnc_id:
- HGNC:1777
- approved reserved:
- 1994-02-14
CDK6（细胞周期蛋白依赖性激酶6）是一种关键的细胞周期调控蛋白，属于CDK（细胞周期蛋白依赖性激酶）家族。该家族成员通过与细胞周期蛋白（Cyclin）结合形成复合物，调控细胞周期的进程，尤其在G1期向S期过渡中起核心作用。CDK6主要与Cyclin D结合，磷酸化视网膜母细胞瘤蛋白（Rb），释放转录因子E2F，促进细胞周期相关基因的表达，推动细胞增殖。除了细胞周期调控，CDK6还参与造血干细胞分化、血管生成和免疫调节等过程。CDK6的突变或异常表达与多种疾病相关，尤其是癌症。例如，CDK6的过表达会导致细胞增殖失控，与乳腺癌、白血病（如急性淋巴细胞白血病）、胶质母细胞瘤等恶性肿瘤的发生密切相关。此外，CDK6在某些淋巴瘤中因基因扩增或上游信号通路（如PI3K/AKT）的激活而过度表达。相反，CDK6表达降低可能影响造血功能或导致细胞周期停滞。CDK家族（包括CDK1-CDK20等）的共性是通过依赖Cyclin的激酶活性调控细胞周期、转录、代谢等过程，且多数成员具有保守的激酶结构域。CDK6与CDK4高度同源，功能部分冗余，但组织分布和调控存在差异。针对CDK6的抑制剂（如Palbociclib）已用于癌症治疗，通过阻断Rb磷酸化抑制肿瘤生长。研究还发现CDK6在炎症和代谢疾病中的作用，拓展了其生物学意义。
The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This kinase is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression and G1/S transition. The activity of this kinase first appears in mid-G1 phase, which is controlled by the regulatory subunits including D-type cyclins and members of INK4 family of CDK inhibitors. This kinase, as well as CDK4, has been shown to phosphorylate, and thus regulate the activity of, tumor suppressor protein Rb. Expression of this gene is up-regulated in some types of cancer. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2009]
由该基因编码的蛋白质是细胞周期蛋白依赖性蛋白激酶（CDK）家族的一个成员。 CDK家族成员是高度相似的酿酒酵母CDC28基因产物，和粟酒裂殖酵母CDC2，并已知是细胞周期进展的重要调节剂。这种激酶是蛋白激酶复合物是细胞周期G1期进展和G1 / S期过渡重要的催化亚基。这种激酶的活性首先出现在中期G1期，这是由该调节亚基包括D-型细胞周期蛋白和INK4家族CDK抑制剂的成员来控制。这种激酶，以及CDK4，已经显示出磷酸化，并因此调节，肿瘤抑制Rb蛋白的活性。该基因的表达在某些类型的癌症上调。多个可变剪接变体，编码相同的蛋白质，也已确定。 [由RefSeq的，2009年11月提供]
基因本体信息
CDK6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
CDK6基因的本体（GO）信息：
| 名称 |
|---|
| 4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
| 4110 Cell cycle [PATH:hsa04110] |
| 4115 p53 signaling pathway [PATH:hsa04115] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5206 MicroRNAs in cancer [PATH:hsa05206] |
| 5203 Viral carcinogenesis [PATH:hsa05203] |
| 5212 Pancreatic cancer [PATH:hsa05212] |
| 5214 Glioma [PATH:hsa05214] |
| 5220 Chronic myeloid leukemia [PATH:hsa05220] |
| 5218 Melanoma [PATH:hsa05218] |
| 5222 Small cell lung cancer [PATH:hsa05222] |
| 5223 Non-small cell lung cancer [PATH:hsa05223] |
| 5162 Measles [PATH:hsa05162] |
| 5161 Hepatitis B [PATH:hsa05161] |
| 名称 |
|---|
| Cell Cycle |
| Cell Cycle, Mitotic |
| Cellular responses to stress |
| Cellular Senescence |
| Cyclin D associated events in G1 |
| G1 Phase |
| Mitotic G1-G1/S phases |
| Oncogene Induced Senescence |
| Oxidative Stress Induced Senescence |
| Senescence-Associated Secretory Phenotype (SASP) |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Rheumatoid Arthritis | 0.255287959 | 9 | 4 | BeFree_CTD_human_GAD_GWASCAT |
| Medulloblastoma | 0.127348794 | 9 | 0 | BeFree_CTD_human_LHGDN |
| Leukemia, Myelocytic, Acute | 0.121628651 | 7 | 0 | BeFree_CTD_human |
| Glioblastoma | 0.121357209 | 6 | 0 | BeFree_CTD_human |
| Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.120814326 | 4 | 0 | BeFree_CTD_human |
| Mammary Neoplasms, Experimental | 0.12 | 1 | 0 | CTD_human |
| MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE | 0.12 | 1 | 0 | UNIPROT |
| Chromosome Aberrations | 0.12 | 1 | 0 | CTD_human |
| Chloracne | 0.12 | 1 | 0 | CTD_human |
| Brain Stem Neoplasms | 0.12 | 1 | 0 | CTD_human |
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