CENPE(着丝粒相关蛋白E)是一种微管动力蛋白,属于驱动蛋白(kinesin)家族中的Kinesin-7亚家族。该基因编码的蛋白质在有丝分裂过程中发挥关键作用,主要定位在动粒(kinetochore)上,负责介导染色体与纺锤体微管的正确连接和染色体向赤道板的排列。CENPE具有ATP酶活性,能够沿着微管移动,帮助纠正错误的染色体-微管连接,确保染色体的正确分离。CENPE的突变或功能异常可能导致染色体错误分离,引发非整倍体(aneuploidy),这与多种癌症的发生密切相关,如结直肠癌、乳腺癌和肺癌等。此外,CENPE的突变还与某些罕见的遗传性疾病相关,如Mosaic Variegated Aneuploidy(MVA)综合征,患者表现为发育迟缓、小头畸形和癌症易感性增加。CENPE过表达可能导致细胞分裂异常,促进肿瘤细胞的增殖和侵袭性增强;而降低表达则会导致染色体分离错误,细胞周期停滞或凋亡。CENPE属于驱动蛋白家族,该家族成员通常具有保守的ATP结合和微管结合结构域,能够利用ATP水解产生的能量沿微管运输货物或调节微管动力学。Kinesin-7亚家族的成员主要参与有丝分裂和减数分裂过程中的染色体运动。CENPE的功能受到多种激酶(如Aurora B和PLK1)的调控,这些激酶通过磷酸化修饰调节其与微管和动粒的结合能力。CENPE已成为抗癌药物开发的潜在靶点,抑制其功能可干扰肿瘤细胞的有丝分裂,目前已有针对CENPE的小分子抑制剂进入临床前研究阶段。
Centrosome-associated protein E (CENPE) is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. This protein is required for stable spindle microtubule capture at kinetochores which is a necessary step in chromosome alignment during prometaphase. This protein also couples chromosome position to microtubule depolymerizing activity. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Nov 2014]
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CENPE基因(以及对应的蛋白质)的细胞分布位置:
CENPE基因的本体(GO)信息:
名称 |
---|
Adaptive Immune System |
Cell Cycle |
Cell Cycle, Mitotic |
Factors involved in megakaryocyte development and platelet production |
Hemostasis |
Immune System |
Kinesins |
M Phase |
MHC class II antigen presentation |
Mitotic Anaphase |
Mitotic Metaphase and Anaphase |
Mitotic Prometaphase |
Resolution of Sister Chromatid Cohesion |
RHO GTPase Effectors |
RHO GTPases Activate Formins |
Separation of Sister Chromatids |
Signal Transduction |
Signaling by Rho GTPases |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Testicular Germ Cell Tumor | 0.12 | 2 | 1 | GWASCAT |
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE | 0.12 | 1 | 2 | UNIPROT |
Seckel syndrome | 0.12 | 0 | 0 | ORPHANET |
Malignant neoplasm of breast | 0.002638474 | 2 | 0 | BeFree_GAD |
Testicular Neoplasms | 0.002367032 | 1 | 1 | GAD |
Alcoholic Intoxication, Chronic | 0.002367032 | 1 | 0 | GAD |
Central neuroblastoma | 0.000542884 | 2 | 0 | BeFree |
Neuroblastoma | 0.000542884 | 2 | 0 | BeFree |
Pituitary Diseases | 0.000271442 | 1 | 0 | BeFree |
Dwarfism | 0.000271442 | 1 | 0 | BeFree |
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