CCNA1: Cyclin A1 in Cell Cycle Regulation and Cancer
A comprehensive resource on CCNA1 gene, its expression, mutations, and associated diseases.
Gene Information Card
| Symbol | CCNA1 |
|---|---|
| Full Name | Cyclin A1 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q13.3 |
| NCBI Gene ID | 8900 ncbi.nlm.nih.gov/gene/8900 |
| Ensembl ID | ENSG00000133101 |
| UniProt ID | P78396 |
| OMIM ID | 604036 |
| HGNC ID | 1578 |
| Aliases | Cyclin-A1 |
Description
CCNA1 (Cyclin A1) is a protein-coding gene that encodes a member of the cyclin family, specifically cyclin A1. Cyclin A1 is involved in the regulation of the cell cycle, primarily during the S phase and G2/M transition. It binds to and activates cyclin-dependent kinase 2 (CDK2) and cell division cycle 2 (CDC2) kinases. Expression of CCNA1 is predominantly in the testis and in certain hematopoietic cells, and it is frequently dysregulated in various cancers, including acute myeloid leukemia and testicular germ cell tumors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Myeloid Leukemia | Overexpression of CCNA1 contributes to leukemogenesis by promoting cell cycle progression and genomic instability. | PubMed: 10655551, COSMIC |
| Testicular Germ Cell Tumor | CCNA1 is highly expressed in testicular germ cell tumors, suggesting a role in tumor proliferation. | PubMed: 11159946, COSMIC |
| Breast Cancer | Altered CCNA1 expression is associated with poor prognosis and tumor progression. | PubMed: 21750110, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Bone Marrow | 8.1 | Medium |
| Lymph Node | 3.5 | Low |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 12.3 | High expression in myeloid leukemia cell line |
| HeLa (cervical cancer) | 2.1 | Low expression |
| MCF7 (breast cancer) | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Cys) | Missense | 0.02% | Unknown functional effect |
| c.456_457insA (p.Gln153Thrfs*12) | Frameshift | 0.01% | Loss of function |
| c.789G>A (p.Trp263*) | Nonsense | 0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in CCNA1 are predicted to result in truncated or absent protein, leading to loss of cyclin A1 function and impaired cell cycle regulation.
Gain of Function (GOF)
No gain-of-function mutations have been reported in CCNA1.
Dominant Negative (DN)
No dominant-negative mutations have been reported in CCNA1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell Cycle (KEGG: hsa04110)
• p53 signaling pathway (KEGG: hsa04115)
• Cellular Senescence (KEGG: hsa04218)
Protein Summary
Cyclin A1 is a 465-amino acid protein with a molecular weight of approximately 52 kDa. It contains a cyclin box domain that mediates binding to CDK2 and CDC2. The protein is predominantly nuclear and regulates cell cycle progression. Cyclin A1 is essential for spermatogenesis and is also implicated in the development of certain cancers, particularly acute myeloid leukemia and testicular germ cell tumors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCNA1 Knockout HEK293 Cell Line | EDJ-KQ1867 | Human | 8900 | Details Get a Quote |
| CCNA1 Knockout HeLa Cell Line | EDJ-KQ55029 | Human | 8900 | Details Get a Quote |
| CCNA1 Knockout A-549 Cell Line | EDJ-KQ63515 | Human | 8900 | Details Get a Quote |
| CCNA1 Knockout HCT 116 Cell Line | EDJ-KQ71981 | Human | 8900 | Details Get a Quote |
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