CCNA1 (cyclin A1)
- symbol:
- CCNA1
- locus group:
- protein-coding gene
- location:
- 13q13.3
- gene_family:
- Cyclins
- alias symbol:
- CT146
- alias name:
- None
- entrez id:
- 8900
- ensembl gene id:
- ENSG00000133101
- ucsc gene id:
- uc010teo.3
- refseq accession:
- NM_003914
- hgnc_id:
- HGNC:1577
- approved reserved:
- 1999-01-06
CCNA1（Cyclin A1）是细胞周期蛋白家族（Cyclin家族）的成员之一，属于A型周期蛋白亚家族（Cyclin A subfamily）。该基因编码的蛋白质Cyclin A1是一种调控细胞周期进程的关键分子，主要通过与细胞周期依赖性激酶（CDK，如CDK2）结合形成复合物，驱动细胞从G1期进入S期（DNA合成期）以及从G2期进入M期（有丝分裂期）。Cyclin A1在生殖细胞（如精原细胞）和某些造血细胞中表达较高，而在体细胞中主要由Cyclin A2发挥功能。其表达受转录和翻译后调控（如泛素-蛋白酶体降解途径）。突变或异常表达可能导致细胞周期紊乱：例如，CCNA1过表达会加速细胞周期进程，可能诱发不受控的细胞增殖，与某些白血病（如急性髓系白血病AML）和实体瘤（如前列腺癌）的发生相关；而表达降低则可能导致生殖细胞发育异常或造血功能障碍。该基因的家族共性包括：均含有保守的“周期蛋白盒（cyclin box）”结构域，用于结合CDK；其蛋白水平呈周期性波动以精准调控细胞周期。此外，CCNA1与DNA损伤修复通路存在交叉作用，其缺失可能增加基因组不稳定性。目前针对CCNA1的研究也涉及癌症靶向治疗，例如通过抑制其与CDK的相互作用阻断肿瘤细胞增殖。专业术语解释：细胞周期依赖性激酶（CDK）是一类依赖周期蛋白激活的激酶，磷酸化下游靶蛋白推动细胞周期；泛素-蛋白酶体途径是细胞内蛋白质降解的主要机制之一，通过泛素标记靶蛋白使其被蛋白酶体分解。
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. The cyclin encoded by this gene was shown to be expressed in testis and brain, as well as in several leukemic cell lines, and is thought to primarily function in the control of the germline meiotic cell cycle. This cyclin binds both CDK2 and CDC2 kinases, which give two distinct kinase activities, one appearing in S phase, the other in G2, and thus regulate separate functions in cell cycle. This cyclin was found to bind to important cell cycle regulators, such as Rb family proteins, transcription factor E2F-1, and the p21 family proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [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。由该基因编码的细胞周期蛋白示于睾丸和脑中表达，以及在几个白血病细胞系，并且被认为是在该种系减数分裂细胞周期的控制主要功能。这个周期蛋白结合既CDK2和CDC2激酶，这给两个不同的激酶活性，人们出现在S期，另外在G2和从而调节细胞周期独立的功能。此周期被发现结合于重要的细胞周期调节剂，如铷家族蛋白，转录因子E2F-1和p21的蛋白家族。已发现该基因编码不同亚型的多个抄本变形。 [由RefSeq的，2008年7月提供]
基因本体信息
CCNA1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
CCNA1基因的本体（GO）信息：
| 名称 |
|---|
| 4152 AMPK signaling pathway [PATH:hsa04152] |
| 4110 Cell cycle [PATH:hsa04110] |
| 4914 Progesterone-mediated oocyte maturation [PATH:hsa04914] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5202 Transcriptional misregulation in cancers [PATH:hsa05202] |
| 5203 Viral carcinogenesis [PATH:hsa05203] |
| 5221 Acute myeloid leukemia [PATH:hsa05221] |
| 5161 Hepatitis B [PATH:hsa05161] |
| 5169 Epstein-Barr virus infection [PATH:hsa05169] |
| 名称 |
|---|
| Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins |
| APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint |
| APC/C-mediated degradation of cell cycle proteins |
| APC/C:Cdc20 mediated degradation of mitotic proteins |
| Cdc20:Phospho-APC/C mediated degradation of Cyclin A |
| Cell Cycle |
| Cell Cycle, Mitotic |
| Cellular responses to stress |
| Cellular Senescence |
| Cyclin A:Cdk2-associated events at S phase entry |
| Cyclin A/B1 associated events during G2/M transition |
| Cyclin E associated events during G1/S transition |
| DNA Damage/Telomere Stress Induced Senescence |
| DNA Replication |
| E2F mediated regulation of DNA replication |
| G0 and Early G1 |
| G1/S Transition |
| G1/S-Specific Transcription |
| G2 Phase |
| G2/M Transition |
| Mitotic G1-G1/S phases |
| Mitotic G2-G2/M phases |
| Orc1 removal from chromatin |
| Phosphorylation of proteins involved in the G2/M transition by Cyclin A:Cdc2 complexes |
| Regulation of APC/C activators between G1/S and early anaphase |
| Regulation of DNA replication |
| Regulation of mitotic cell cycle |
| Removal of licensing factors from origins |
| S Phase |
| SCF(Skp2)-mediated degradation of p27/p21 |
| Senescence-Associated Secretory Phenotype (SASP) |
| Switching of origins to a post-replicative state |
| Synthesis of DNA |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Squamous cell carcinoma of the head and neck | 0.121085767 | 5 | 0 | BeFree_CTD_human |
| Papillomavirus Infections | 0.12 | 1 | 0 | CTD_human |
| Liver carcinoma | 0.12 | 1 | 0 | CTD_human |
| Prostatic Neoplasms | 0.005720142 | 2 | 0 | BeFree_LHGDN |
| leukemia | 0.004353001 | 7 | 0 | BeFree_LHGDN |
| Leukemia, Myelocytic, Acute | 0.002985861 | 11 | 0 | BeFree |
| Male infertility | 0.002638474 | 1 | 0 | BeFree_GAD |
| Malignant neoplasm of ovary | 0.002367032 | 1 | 0 | GAD |
| Fibrinogen Adverse Event | 0.002367032 | 1 | 1 | GAD |
| Cervix carcinoma | 0.002171535 | 8 | 0 | BeFree |
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