CENPA(着丝粒蛋白A)是一种组蛋白H3变体,主要位于染色体的着丝粒区域,负责调控染色体的正确分离和细胞有丝分裂的稳定性。CENPA是着丝粒特异性核小体的核心组成部分,能够招募其他着丝粒相关蛋白(如CENP-C、CENP-N等)形成功能性着丝粒,确保纺锤体微管正确附着,从而在细胞分裂时精确分配染色体。CENPA的突变可能导致着丝粒功能异常,引发染色体不稳定性、非整倍体或微核形成,与多种癌症(如乳腺癌、结直肠癌)及发育障碍相关。CENPA过表达可能增加染色体错误分离的风险,促进肿瘤发生;而表达降低则可能导致着丝粒组装缺陷,引发细胞周期停滞或凋亡。CENPA属于CENP(着丝粒蛋白)家族,该家族成员(如CENPB、CENPC等)共同参与着丝粒结构与功能的维持,确保有丝分裂和减数分裂的正常进行。CENP家族蛋白通常含有保守的DNA结合或蛋白质互作域,能够特异性识别着丝粒区域并形成多蛋白复合物。CENPA的表达受细胞周期严格调控,在G1期开始积累,S期达到高峰,其异常表达可能影响其他细胞周期相关基因(如CDK1、Cyclin B)的功能。研究CENPA有助于理解染色体稳定性机制及开发针对癌症的靶向治疗策略。
Centromeres are the differentiated chromosomal domains that specify the mitotic behavior of chromosomes. CENPA encodes a centromere protein which contains a histone H3 related histone fold domain that is required for targeting to the centromere. CENPA is proposed to be a component of a modified nucleosome or nucleosome-like structure in which it replaces 1 or both copies of conventional histone H3 in the (H3-H4)2 tetrameric core of the nucleosome particle. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
Subcellular localization of CENPA (and its protein):
Gene Ontology (GO) terms for CENPA:
| Interacting Gene | Interaction | Source/Score |
| Name |
|---|
| Cell Cycle |
| Cell Cycle, Mitotic |
| Chromosome Maintenance |
| Deposition of new CENPA-containing nucleosomes at the centromere |
| M Phase |
| Mitotic Anaphase |
| Mitotic Metaphase and Anaphase |
| Mitotic Prometaphase |
| Nucleosome assembly |
| Resolution of Sister Chromatid Cohesion |
| RHO GTPase Effectors |
| RHO GTPases Activate Formins |
| Separation of Sister Chromatids |
| Signal Transduction |
| Signaling by Rho GTPases |
| Disease | Score | NofPmids | NofSnps | Source |
| IGA Glomerulonephritis | 0.12 | 1 | 0 | CTD_human |
| Colorectal Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Systemic Scleroderma | 0.001085767 | 4 | 0 | BeFree |
| Adenocarcinoma of lung (disorder) | 0.000814326 | 3 | 0 | BeFree |
| Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Scleroderma | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000542884 | 2 | 0 | BeFree |
| Colorectal Cancer | 0.000542884 | 2 | 0 | BeFree |
| Liver carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Colorectal Carcinoma | 0.000542884 | 2 | 0 | BeFree |
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