rs1406
This is a 3 prime utr variant variant in the CCNE1 gene.
▶Research that mentions this SNP (1)
▶The eukaryotic translation elongation factor eEF1A2 induces neoplastic properties and mediates tumorigenic effects of ZNF217 in precursor cells of human ovarian carcinomasFunctionalYu Sun et al.(2008)· International Journal of Cancer
This functional study investigated the oncogenic role of eEF1A2 (eukaryotic translation elongation factor 1A2) in ovarian cancer precursor cells. eEF1A2 overexpression, induced via lentiviral delivery in immortalized ovarian surface epithelial cells, caused delayed cellular crisis, apoptosis resistance, increased anchorage independence, and enhanced serum-independence. Gene copy number analysis revealed variable EEF1A2 amplification (1-4 copies) in cell colonies during crisis, using SNP arrays to track genomic changes near rs1406 and rs6089982. siRNA knockdown of eEF1A2 reversed apoptosis resistance and anchorage independence, suggesting EEF1A2 mediates neoplastic properties induced by the transcription factor ZNF217.
About CCNE1
The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2, whose activity is required for cell cycle G1/S transition. This protein accumulates at the G1-S phase boundary and is degraded as cells progress through S phase. Overexpression of this gene has been observed in many tumors, which results in chromosome instability, and thus may contribute to tumorigenesis. This protein was found to associate with, and be involved in, the phosphorylation of NPAT protein (nuclear protein mapped to the ATM locus), which participates in cell-cycle regulated histone gene expression and plays a critical role in promoting cell-cycle progression in the absence of pRB. [provided by RefSeq, Apr 2016]
View all CCNE1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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