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.

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 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
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