CCNE1
Cyclin E1: A Key Regulator of Cell Cycle G1/S Transition and Oncogene in Cancer
Gene Information Card
| Symbol | CCNE1 |
|---|---|
| Full Name | Cyclin E1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q12 |
| NCBI Gene ID | 898 ncbi.nlm.nih.gov/gene/898 |
| Ensembl ID | ENSG00000105173 |
| UniProt ID | P24864 |
| OMIM ID | 123837 |
| HGNC ID | 1589 |
| Aliases | CCNE, pCCNE1 |
Description
CCNE1 encodes Cyclin E1, a regulatory subunit of cyclin-dependent kinase 2 (CDK2) that controls the G1 to S phase transition of the cell cycle. Cyclin E1 binds and activates CDK2, promoting phosphorylation of key substrates such as retinoblastoma protein (RB1) to drive cell cycle progression. Overexpression or amplification of CCNE1 is frequently observed in several cancers, particularly high-grade serous ovarian carcinoma, where it contributes to genomic instability and therapeutic resistance.
Disease Associations
| Disease Name | Disease Description |
|---|---|
| Ovarian cancer (high-grade serous) | Amplification and overexpression of CCNE1 lead to CDK2 hyperactivation, bypassing G1/S checkpoint and promoting chromosomal instability. |
| Breast cancer | CCNE1 amplification and elevated cyclin E1 levels correlate with poor prognosis and tamoxifen resistance. |
| Gastric cancer | CCNE1 overexpression drives uncontrolled proliferation and is associated with aggressive tumor phenotypes. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.3 | Medium |
| Bone marrow | 18.7 | Medium |
| Lymph node | 15.2 | Medium |
| Ovary | 12.1 | Medium |
| Breast | 8.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| OVCAR-3 (ovarian cancer) | 45.2 | High expression; model for CCNE1-amplified ovarian cancer |
| MCF7 (breast cancer) | 22.8 | Moderate expression; estrogen receptor positive |
| HeLa (cervical cancer) | 30.1 | High expression; commonly used cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Mutation site | Type | Frequency | Functional Description |
|---|---|---|---|
| c.113G>A (p.Arg38Gln) | Missense | <1% | Altered CDK2 binding affinity; functional impact uncertain |
| Amplification (19q12) | Copy number gain | ~20% in high-grade serous ovarian cancer | Increased cyclin E1 protein levels; drives oncogenic signaling |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of translation initiation; likely loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Rare truncating or start-loss mutations that impair cyclin E1 expression or CDK2 binding, potentially reducing cell cycle progression.
Gain of Function (GOF)
Gene amplification and overexpression leading to sustained CDK2 activity, accelerated G1/S transition, and oncogenic transformation.
Dominant Negative (DN)
Not well documented for CCNE1; most reported variants are either loss- or gain-of-function.
View complete mutation data：ClinVar: https://www.clinvar.com/gene/898 COSMIC: https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=CCNE1
Gene Ontology (GO)
| • G1/S transition of mitotic cell cycle | • cyclin-dependent protein serine/threonine kinase regulator activity |
| • protein binding | • nucleus |
| • cytoplasm |
Pathways
• Cell Cycle (KEGG hsa04110)
• p53 signaling pathway (KEGG hsa04115)
• G1/S Checkpoint (Reactome R-HSA-69278)
Protein Summary
Cyclin E1 is a 395-amino-acid protein (47 kDa) that contains a cyclin box domain essential for CDK2 binding and activation. It is expressed in a cell cycle-dependent manner, peaking at the G1/S boundary. The protein is degraded via ubiquitin-mediated proteolysis after S phase entry. Structural studies show that cyclin E1 binding induces conformational changes in CDK2, enabling substrate phosphorylation. Post-translational modifications include phosphorylation at Thr395, which regulates protein stability.
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCNE1 Knockout HEK293 Cell Line | EDC07535 | Human | 898 | Details Get a Quote |
| CCNE1 Knockout A-549 Cell Line | EDJ-KQ26129 | Human | 898 | Details Get a Quote |
| CCNE1 Knockout HCT 116 Cell Line | EDJ-KQ26130 | Human | 898 | Details Get a Quote |
| CCNE1 Knockout HeLa Cell Line | EDJ-KQ26131 | Human | 898 | Details Get a Quote |
| CCNE1 (p.S405=) Point Mutation in HAP1 Cell Line | EDC03432 | Human | 898 | Details Get a Quote |
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