CCND1 (cyclin D1)
- symbol:
- CCND1
- locus group:
- protein-coding gene
- location:
- 11q13.3
- gene_family:
- Cyclins
- alias symbol:
- U21B31
- alias name:
- parathyroid adenomatosis 1|B-cell …
- entrez id:
- 595
- ensembl gene id:
- ENSG00000110092
- ucsc gene id:
- uc001opa.4
- refseq accession:
- NM_053056
- hgnc_id:
- HGNC:1582
- approved reserved:
- 1991-06-06
CCND1（Cyclin D1）是细胞周期蛋白D家族的成员之一，属于细胞周期调控基因家族（Cyclin家族）。该基因编码的蛋白Cyclin D1是细胞周期G1期向S期过渡的关键调控因子，通过与细胞周期依赖性激酶（CDK4/6）结合形成复合物，促进视网膜母细胞瘤蛋白（Rb）的磷酸化，从而释放转录因子E2F，驱动细胞进入DNA复制阶段。CCND1的生物学功能主要体现在调控细胞增殖、分化和存活，尤其在乳腺、食管、淋巴组织等器官中表达显著。其主要作用位点是细胞核，通过与CDK4/6相互作用影响细胞周期进程。CCND1的突变或异常表达与多种疾病相关，例如基因扩增或过表达常见于乳腺癌、套细胞淋巴瘤（MCL）和头颈部鳞癌等恶性肿瘤，导致细胞周期失控和肿瘤发生。相反，CCND1表达降低可能引起细胞周期阻滞或衰老，影响组织再生。该基因的突变类型包括点突变、基因扩增和染色体易位（如t(11;14)易位导致套细胞淋巴瘤中CCND1过表达），这些变异通常增强其稳定性或表达水平，促进肿瘤发展。CCND1还参与其他信号通路，如Wnt/β-catenin和PI3K/AKT，其过表达可能抑制凋亡并增强细胞迁移。基因家族Cyclin的共性是通过与CDK结合调控细胞周期不同阶段，成员间具有保守的周期蛋白盒（cyclin box）结构域。若CCND1过表达，可能加速细胞增殖并诱发癌症，而表达不足则可能导致发育迟缓或组织修复障碍。此外，CCND1与某些耐药性相关，例如在乳腺癌中高表达可能降低内分泌治疗敏感性。研究还发现CCND1的多态性（如rs9344）与癌症风险相关。
The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout 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 CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of tumors and may contribute to tumorigenesis. [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，其成员的特征是不同的细胞周期蛋白丰度变化较大。细胞周期蛋白可以调控CDK激酶。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和功能与CDK4或CDK6的调节亚基，其活性所需的细胞周期G1 / S期转换。这种蛋白已经显示出与肿瘤抑制Rb蛋白相互作用和该基因的表达由铷正调控。突变，扩增和该基因，从而改变细胞周期进程的过度表达，在多种肿瘤中经常观察到，并可能有助于肿瘤的发生。 [由RefSeq的，2008年7月提供]
基因本体信息
CCND1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
CCND1基因的本体（GO）信息：
| 名称 |
|---|
| 4310 Wnt signaling pathway [PATH:hsa04310] |
| 4390 Hippo signaling pathway [PATH:hsa04390] |
| 4630 Jak-STAT signaling pathway [PATH:hsa04630] |
| 4068 FoxO signaling pathway [PATH:hsa04068] |
| 4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
| 4152 AMPK signaling pathway [PATH:hsa04152] |
| 4110 Cell cycle [PATH:hsa04110] |
| 4115 p53 signaling pathway [PATH:hsa04115] |
| 4510 Focal adhesion [PATH:hsa04510] |
| 4917 Prolactin signaling pathway [PATH:hsa04917] |
| 4921 Oxytocin signaling pathway [PATH:hsa04921] |
| 4919 Thyroid hormone signaling pathway [PATH:hsa04919] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5206 MicroRNAs in cancer [PATH:hsa05206] |
| 5205 Proteoglycans in cancer [PATH:hsa05205] |
| 5203 Viral carcinogenesis [PATH:hsa05203] |
| 5210 Colorectal cancer [PATH:hsa05210] |
| 5212 Pancreatic cancer [PATH:hsa05212] |
| 5214 Glioma [PATH:hsa05214] |
| 5216 Thyroid cancer [PATH:hsa05216] |
| 5221 Acute myeloid leukemia [PATH:hsa05221] |
| 5220 Chronic myeloid leukemia [PATH:hsa05220] |
| 5218 Melanoma [PATH:hsa05218] |
| 5219 Bladder cancer [PATH:hsa05219] |
| 5215 Prostate cancer [PATH:hsa05215] |
| 5213 Endometrial cancer [PATH:hsa05213] |
| 5222 Small cell lung cancer [PATH:hsa05222] |
| 5223 Non-small cell lung cancer [PATH:hsa05223] |
| 5416 Viral myocarditis [PATH:hsa05416] |
| 5166 HTLV-I infection [PATH:hsa05166] |
| 5162 Measles [PATH:hsa05162] |
| 5161 Hepatitis B [PATH:hsa05161] |
| 名称 |
|---|
| Cell Cycle |
| Cell Cycle, Mitotic |
| Chromatin modifying enzymes |
| Chromatin organization |
| Cyclin D associated events in G1 |
| G1 Phase |
| Mitotic G1-G1/S phases |
| Pre-NOTCH Expression and Processing |
| Pre-NOTCH Transcription and Translation |
| RMTs methylate histone arginines |
| S Phase |
| Signal Transduction |
| Signaling by NOTCH |
| Ubiquitin-dependent degradation of Cyclin D |
| Ubiquitin-dependent degradation of Cyclin D1 |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Multiple Myeloma | 0.396704242 | 76 | 1 | BeFree_CTD_human_GWASCAT_LHGDN_ORPHANET |
| Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | 0.342985716 | 272 | 0 | BeFree_CTD_human_LHGDN_ORPHANET |
| Chronic Lymphocytic Leukemia | 0.256210567 | 52 | 0 | BeFree_CTD_human_GAD_ORPHANET |
| Prostatic Neoplasms | 0.216531667 | 9 | 0 | BeFree_CTD_human_GAD_LHGDN_RGD |
| Carcinoma, Transitional Cell | 0.20408156 | 7 | 0 | BeFree_CTD_human_LHGDN_RGD |
| Mammary Neoplasms, Experimental | 0.2 | 5 | 0 | CTD_human_RGD |
| Mammary Neoplasms | 0.193441786 | 59 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Colorectal Neoplasms | 0.150067542 | 12 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Liver carcinoma | 0.147012161 | 68 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Esophageal Neoplasms | 0.145522924 | 24 | 3 | BeFree_CTD_human_GAD_LHGDN |
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