CETN3(centrin 3)是centrin基因家族的成员之一,该家族还包括CETN1、CETN2和CETN4。Centrin家族是一类高度保守的钙结合蛋白,具有EF-hand结构域,能够结合钙离子并参与细胞内的钙信号传导。这些蛋白在多种细胞过程中发挥作用,包括中心体组装、微管组织、DNA损伤修复和纤毛/鞭毛的运动调控。CETN3主要定位于中心体和基体,参与中心体的复制和纺锤体形成,对细胞分裂的准确性至关重要。此外,CETN3在纤毛的形成和功能中也扮演重要角色,特别是在感觉纤毛和运动纤毛的组装过程中。CETN3的突变可能导致中心体功能异常,进而影响细胞周期调控,与某些癌症(如乳腺癌和结直肠癌)的发生有关。CETN3表达异常还可能影响纤毛相关疾病,如原发性纤毛运动障碍(PCD)和某些视网膜退化性疾病。过表达CETN3可能导致中心体过度复制,引发基因组不稳定性和非整倍体,促进肿瘤发展。相反,CETN3表达降低可能破坏中心体结构和功能,导致纺锤体缺陷和细胞分裂错误,同样与癌症发生相关。CETN3还与其他centrin家族成员相互作用,例如与CETN2共同调控中心体功能,但其具体机制仍有待深入研究。总体而言,CETN3在维持基因组稳定性和纤毛功能中起关键作用,其表达水平的异常与多种疾病密切相关。
The protein encoded by this gene contains four EF-hand calcium binding domains, and is a member of the centrin protein family. Centrins are evolutionarily conserved proteins similar to the CDC31 protein of S. cerevisiae. Yeast CDC31 is located at the centrosome of interphase and mitotic cells, where it plays a fundamental role in centrosome duplication and separation. Multiple forms of the proteins similar to the yeast centrin have been identified in human and other mammalian cells, some of which have been shown to be associated with centrosome fractions. This protein appears to be one of the most abundant centrins associated with centrosome, which suggests a similar function to its yeast counterpart. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
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CETN3基因(以及对应的蛋白质)的细胞分布位置:
CETN3基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Malignant neoplasm of breast | 0.002367032 | 1 | 0 | GAD |
Astrocytoma | 0.000271442 | 1 | 0 | BeFree |
Meningioma | 0.000271442 | 1 | 0 | BeFree |
Pituitary Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Meningioma, benign, no ICD-O subtype | 0.000271442 | 1 | 0 | BeFree |
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