The product of this gene is a core component of the exon junction complex (EJC), a protein complex that is deposited on spliced mRNAs at exon-exon junctions and functions in nonsense-mediated mRNA decay (NMD). The encoded protein binds RNA and interacts with two other EJC core components. It is predominantly located in the cytoplasm, but shuttles into the nucleus where it localizes to nuclear speckles. [provided by RefSeq, Jul 2008]
这个基因的产物是外显子连接复合物(EJC),即在无义介导的mRNA降解(NMD)沉积在剪接的mRNA外显子 - 外显子接点和功能的蛋白质复合物的核心组件。所编码的蛋白质结合的RNA,并与其他两个EJC核心组件进行交互。它主要位于细胞质中,但是穿梭进入它定位于核斑点细胞核。 [由RefSeq的,2008年7月提供]
CASC3基因(以及对应的蛋白质)的细胞分布位置:
CASC3基因的本体(GO)信息:
名称 |
---|
3013 RNA transport [PATH:hsa03013] |
3015 mRNA surveillance pathway [PATH:hsa03015] |
名称 |
---|
Gene Expression |
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) |
Nonsense-Mediated Decay (NMD) |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Rheumatoid Arthritis | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of breast | 0.000542884 | 2 | 0 | BeFree |
Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
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