CCNE1
cyclin E1
Summary
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]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3218027 | 19:30,303,352 | T/C | regulatory region variant | — |
| rs774836905 | 19:30,303,681 | G/C | — | uncertain significance |
| rs772724283 | 19:30,303,876 | T/C | — | uncertain significance |
| rs146376659 | 19:30,303,889 | C/A | — | uncertain significance |
| rs997669 | 19:30,304,483 | T/C | intron variant | — |
| rs3218035 | 19:30,305,449 | C/A | — | — |
| rs3218036 | 19:30,305,684 | G/A | intron variant | — |
| rs3218038 | 19:30,305,895 | G/T | intron variant | — |
| rs3218042 | 19:30,307,338 | T/A | intron variant | — |
| rs1184407047 | 19:30,308,095 | C/A | — | uncertain significance |
| rs1292366571 | 19:30,308,108 | A/G | — | uncertain significance |
| rs147120845 | 19:30,308,110 | G/C | — | uncertain significance |
| rs1599599505 | 19:30,308,182 | G/A | — | uncertain significance |
| rs904766205 | 19:30,308,318 | C/G | — | uncertain significance |
| rs372635299 | 19:30,311,679 | C/T | — | uncertain significance |
| rs2513389518 | 19:30,312,719 | A/G | — | uncertain significance |
| rs1378454959 | 19:30,312,984 | C/T | — | likely benign |
| rs189673443 | 19:30,313,000 | C/T | — | uncertain significance |
| rs1249477312 | 19:30,313,198 | A/G | — | likely benign |
| rs1056559593 | 19:30,313,448 | A/G | — | uncertain significance |
| rs748789990 | 19:30,313,478 | A/G | — | uncertain significance |
| rs3218070 | 19:30,313,603 | C/G | intron variant | — |
| rs764865470 | 19:30,314,649 | G/A | — | likely benign |
| rs7257694 | 19:30,314,666 | C/T | synonymous variant | — |
| rs926232732 | 19:30,314,667 | G/A | — | uncertain significance |
| rs3218073 | 19:30,315,016 | C/T | 3 prime UTR variant | — |
| rs1406 | 19:30,315,112 | C/A | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.