CHAF1B(染色质组装因子1亚基B)是染色质组装因子1(CAF-1)复合物的一个关键亚基,属于CAF-1基因家族。CAF-1复合物由CHAF1A、CHAF1B和RBBP4三个亚基组成,主要功能是在DNA复制和修复过程中介导组蛋白H3和H4的组装,从而促进染色质结构的形成和维持基因组稳定性。CHAF1B在细胞周期S期表达较高,通过与组蛋白和新合成的DNA结合,确保染色质正确组装,这对DNA复制、基因表达调控和表观遗传修饰至关重要。CHAF1B的突变或表达异常可能导致染色质组装缺陷,进而引发基因组不稳定性、复制压力增加以及细胞周期紊乱。研究发现,CHAF1B的突变或低表达与某些癌症(如乳腺癌、结直肠癌)的发生发展相关,可能通过影响DNA修复和表观遗传调控促进肿瘤进展。相反,CHAF1B的过表达可能加速细胞增殖,在某些癌症中与不良预后相关。此外,CHAF1B还参与干细胞维持和分化过程,其表达水平异常可能影响细胞命运决定。CAF-1基因家族的共性在于它们共同参与染色质组装和维持,调控染色质动态变化,并在DNA代谢过程中发挥核心作用。CHAF1B作为该家族的重要成员,其功能异常不仅影响染色质结构,还可能通过干扰其他基因的表达或信号通路(如p53通路)对细胞产生广泛影响。因此,CHAF1B是研究染色质生物学、癌症发生和细胞周期调控的重要靶点。
Chromatin assembly factor I (CAF-I) is required for the assembly of histone octamers onto newly-replicated DNA. CAF-I is composed of three protein subunits, p50, p60, and p150. The protein encoded by this gene corresponds to the p60 subunit and is required for chromatin assembly after replication. The encoded protein is differentially phosphorylated in a cell cycle-dependent manner. In addition, it is normally found in the nucleus except during mitosis, when it is released into the cytoplasm. This protein is a member of the WD-repeat HIR1 family and may also be involved in DNA repair. [provided by RefSeq, Jul 2008]
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CHAF1B基因(以及对应的蛋白质)的细胞分布位置:
CHAF1B基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Down Syndrome | 0.123267234 | 4 | 0 | BeFree_CTD_human_LHGDN |
Muscle Weakness | 0.12 | 1 | 0 | CTD_human |
Mouth Diseases | 0.12 | 1 | 0 | CTD_human |
Poor school performance | 0.12 | 0 | 1 | CLINVAR |
Alzheimer's Disease | 0.00272435 | 1 | 0 | LHGDN |
Squamous cell carcinoma of tongue | 0.000271442 | 1 | 0 | BeFree |
Mammary Neoplasms | 0.000271442 | 1 | 0 | BeFree |
DOWN SYNDROME CRITICAL REGION | 0.000271442 | 1 | 0 | BeFree |
Lupus Erythematosus, Systemic | 0.000271442 | 1 | 0 | BeFree |
Aseptic Meningitis | 0.000271442 | 1 | 0 | BeFree |
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