MCM5(微小染色体维持蛋白5)是微小染色体维持蛋白(MCM)基因家族的成员之一,该家族包括MCM2-7共六个基因,共同形成六聚体复合物,在DNA复制起始和延伸过程中发挥核心作用。MCM家族蛋白是真核生物DNA复制的关键调控因子,负责解旋DNA双链以确保复制叉的正常推进。MCM5与其他MCM蛋白共同组装成环状结构,包裹DNA并利用ATP水解提供能量推动复制叉移动。MCM5的突变可能导致DNA复制障碍,引发基因组不稳定,进而与多种癌症(如结直肠癌、乳腺癌)的发生相关。研究表明,MCM5表达异常(如过表达)常出现在快速增殖的肿瘤细胞中,可作为细胞增殖的生物标志物;而MCM5表达降低则可能导致DNA复制停滞或错误,引发细胞周期阻滞甚至凋亡。此外,MCM5还参与细胞周期检查点调控,其功能异常可能影响细胞对DNA损伤的修复能力。MCM5与某些病毒感染(如HPV)的致病机制也有关联,病毒可能利用宿主细胞的MCM蛋白促进自身基因组复制。该基因的遗传变异或表达失调已被报道与多种疾病风险相关,包括发育异常和神经退行性疾病。MCM蛋白家族成员具有高度保守的AAA+ ATP酶结构域,这是它们行使解旋酶功能的关键区域。
The protein encoded by this gene is structurally very similar to the CDC46 protein from S. cerevisiae, a protein involved in the initiation of DNA replication. The encoded protein is a member of the MCM family of chromatin-binding proteins and can interact with at least two other members of this family. The encoded protein is upregulated in the transition from the G0 to G1/S phase of the cell cycle and may actively participate in cell cycle regulation. [provided by RefSeq, Jul 2008]
由该基因编码的蛋白质在结构上非常相似,来自酿酒酵母的CDC46蛋白质,参与DNA复制的起始的蛋白质。所编码的蛋白质是MCM族染色质结合蛋白的成员,并且可以与这个家族的至少两个其它成员相互作用。所编码的蛋白质在从G0到细胞周期的G1 / S期的过渡上调,可积极参与细胞周期调控。 [由RefSeq的,2008年7月提供]
MCM5基因(以及对应的蛋白质)的细胞分布位置:
MCM5基因的本体(GO)信息:
名称 |
---|
3030 DNA replication [PATH:hsa03030] |
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 |
Cell Cycle |
Cell Cycle Checkpoints |
Cell Cycle, Mitotic |
DNA Replication |
DNA Replication Pre-Initiation |
DNA strand elongation |
G1/S Transition |
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 |
Unwinding of DNA |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Alcoholic Intoxication, Chronic | 0.08 | 1 | 0 | RGD |
Colonic Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Dermatologic disorders | 0.00272435 | 1 | 0 | LHGDN |
Adenocarcinoma | 0.00272435 | 1 | 0 | LHGDN |
Malignant neoplasm of breast | 0.002638474 | 2 | 0 | BeFree_GAD |
Chronic Lymphocytic Leukemia | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of urinary bladder | 0.000814326 | 3 | 0 | BeFree |
Carcinoma of bladder | 0.000814326 | 3 | 0 | BeFree |
Fibromatosis, Aggressive | 0.000542884 | 2 | 0 | BeFree |
Dyspepsia | 0.000271442 | 1 | 0 | BeFree |
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