CCNL1: Cyclin L1
A cyclin family member involved in transcriptional regulation and RNA splicing
Gene Information Card
| Symbol | CCNL1 |
|---|---|
| Full Name | Cyclin L1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q25.31 |
| NCBI Gene ID | 57018 ncbi.nlm.nih.gov/gene/57018 |
| Ensembl ID | ENSG00000163631 |
| UniProt ID | Q9UK58 |
| OMIM ID | 613384 |
| HGNC ID | 20569 |
| Aliases | ANIA-6B, BM-001, CCNL, cyclin-L1 |
Description
CCNL1 (Cyclin L1) is a protein-coding gene that belongs to the cyclin family. It encodes a cyclin-related protein that functions as a regulator of transcription and RNA splicing. CCNL1 is part of the CDK11-associated complex and influences the phosphorylation of RNA polymerase II, thereby modulating gene expression. The gene is widely expressed in various tissues and has been implicated in cell cycle control, differentiation, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | CCNL1 overexpression may promote cell proliferation and tumor growth through transcriptional dysregulation. | COSMIC; PMID: 25691885 |
| Lung cancer | Altered CCNL1 expression is associated with poor prognosis and may affect splicing of oncogenic transcripts. | COSMIC; PMID: 27626308 |
| Colorectal cancer | CCNL1 upregulation correlates with advanced stage and metastasis, possibly via CDK11-mediated pathways. | COSMIC; PMID: 29348626 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Bone marrow | 9.8 | Medium |
| Brain | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 12.3 | Medium expression |
| A549 | 10.5 | Medium expression |
| MCF7 | 8.9 | Low expression |
| K562 | 7.2 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Ile) | Missense | <0.1% | Unknown functional impact; rare variant |
| c.205G>A (p.Glu69Lys) | Missense | <0.1% | Reported in COSMIC; potential loss-of-function |
| c.457_459del (p.Lys153del) | In-frame deletion | <0.1% | Found in cancer samples; effect unclear |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in CCNL1.
Gain of Function (GOF)
Overexpression of CCNL1 in several cancers suggests potential gain-of-function activity.
Dominant Negative (DN)
No dominant-negative mutations described for CCNL1.
View complete mutation data:
Gene Ontology (GO)
| • regulation of transcription by RNA polymerase II (GO:0006357) | • mRNA processing (GO:0006397) |
| • RNA splicing (GO:0008380) | • nucleus (GO:0005634) |
| • protein binding (GO:0005515) |
Pathways
• RNA polymerase II transcription
• mRNA splicing - major pathway
• CDK11-associated complex
Protein Summary
Cyclin L1 is a 526-amino acid protein containing a cyclin N-terminal domain and a serine/arginine (SR)-rich region. It localizes to the nucleus and interacts with cyclin-dependent kinase 11 (CDK11) to form a complex that phosphorylates serine/arginine-rich splicing factors and the C-terminal domain of RNA polymerase II. This activity links transcription and RNA processing. CCNL1 is broadly expressed, with highest levels in testis and lymphoid tissues. Its dysregulation is observed in multiple cancers, where it may contribute to altered splicing and gene expression programs that favor proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCNL1 Knockout HEK293 Cell Line | EDJ-KQ12823 | Human | 57018 | Details Get a Quote |
| CCNL1 Knockout HeLa Cell Line | EDJ-KQ41961 | Human | 57018 | Details Get a Quote |
| CCNL1 Knockout HCT 116 Cell Line | EDJ-KQ40712 | Human | 57018 | Details Get a Quote |
| CCNL1 Knockout A-549 Cell Line | EDJ-KQ65293 | Human | 57018 | Details Get a Quote |