CCND1 (Cyclin D1) Gene
Key regulator of cell cycle G1/S transition and oncogene in multiple cancers
Gene Information Card
| Symbol | CCND1 |
|---|---|
| Full Name | Cyclin D1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.3 |
| NCBI Gene ID | 595 ncbi.nlm.nih.gov/gene/595 |
| Ensembl ID | ENSG00000110092 |
| UniProt ID | P24385 |
| OMIM ID | 168461 |
| HGNC ID | 1582 |
| Aliases | BCL1, PRAD1, D11S287E |
Description
CCND1 encodes Cyclin D1, a regulatory subunit of cyclin-dependent kinase CDK4/6. It controls the G1 to S phase transition of the cell cycle by phosphorylating and inactivating the retinoblastoma protein (RB1). Overexpression or amplification of CCND1 is frequently observed in various cancers, including mantle cell lymphoma, breast cancer, and multiple myeloma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mantle cell lymphoma | t(11;14)(q13;q32) translocation leads to CCND1 overexpression | PMID: 26875007 |
| Breast cancer | CCND1 amplification and overexpression promote cell proliferation | PMID: 25485619 |
| Multiple myeloma | CCND1 rearrangement and overexpression drive oncogenesis | PMID: 21832227 |
| Parathyroid adenoma | CCND1 rearrangement (PRAD1) leads to Cyclin D1 overexpression | PMID: 1984682 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | 12.5 | Medium |
| Lymph node | 8.3 | Medium |
| Bone marrow | 6.1 | Low |
| Esophagus | 15.2 | Medium |
| Skin | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 18.5 | High expression |
| HeLa (cervical cancer) | 12.3 | Medium expression |
| K562 (leukemia) | 3.2 | Low expression |
| A549 (lung cancer) | 9.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.870G>A (p.Glu290Glu) | Synonymous | 0.02% | Likely benign |
| c.723C>T (p.Pro241Pro) | Synonymous | 0.01% | Unknown significance |
| Amplification | Copy number gain | Common in breast cancer | Increased Cyclin D1 expression |
Mutation functional classification
Loss of Function (LOF)
Rare; not commonly reported for CCND1 in cancer.
Gain of Function (GOF)
Amplification and overexpression are the primary gain-of-function mechanisms.
Dominant Negative (DN)
Not described for CCND1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 - protein binding | • GO:0005634 - nucleus |
| • GO:0005737 - cytoplasm | • GO:0007049 - cell cycle |
| • GO:0051301 - cell division | • GO:0004693 - cyclin-dependent protein serine/threonine kinase activity |
Pathways
• Cell Cycle (KEGG hsa04110)
• p53 signaling pathway (KEGG hsa04115)
• PI3K-Akt signaling pathway (KEGG hsa04151)
• Cyclin D1 in cancer (Reactome R-HSA-69278)
Protein Summary
Cyclin D1 is a 295-amino acid protein (36 kDa) that forms active complexes with CDK4 or CDK6. It promotes cell cycle progression by phosphorylating RB1, releasing E2F transcription factors. Cyclin D1 also has CDK-independent functions, including regulation of transcription factors and chromatin remodeling. Its overexpression is a hallmark of several malignancies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCND1 Knockout HEK293 Cell Line | EDC07534 | Human | 595 | Details Get a Quote |
| CCND1 (p.P241=) Point Mutation in HAP1 Cell Line | EDC03430 | Human | 595 | Details Get a Quote |
| CCND1 Knoc-in HEK293 Cell Line | EDC90205 | Human | 595 | Details Get a Quote |
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