CNOT6L
CCR4-NOT transcription complex subunit 6-like
Gene Information Card
| Symbol | CNOT6L |
|---|---|
| Full Name | CCR4-NOT transcription complex subunit 6-like |
| Gene Type | protein-coding |
| Chromosomal Location | 4q21.22 |
| NCBI Gene ID | 246175 ncbi.nlm.nih.gov/gene/246175 |
| Ensembl ID | ENSG00000138778 |
| UniProt ID | Q96LI5 |
| OMIM ID | 614486 |
| HGNC ID | 20355 |
| Aliases | CCR4b, CCR4-like, Ccr4c, CNOT6L |
Description
CNOT6L encodes a subunit of the CCR4-NOT complex, a major mRNA deadenylase that regulates mRNA stability and translation. The protein catalyzes the removal of poly(A) tails, initiating mRNA decay. CNOT6L is involved in various cellular processes including cell cycle control, differentiation, and response to stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of mRNA stability via altered deadenylase activity | COSMIC, literature |
| Intellectual disability | Potential role in neurodevelopment via mRNA regulation | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 10.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | Embryonic kidney |
| HeLa | 9.5 | Cervical cancer |
| K562 | 7.8 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function |
| c.567G>A (p.Met189Ile) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated protein and reduced deadenylase activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • mRNA deadenylase activity | • poly(A)-specific ribonuclease activity |
| • CCR4-NOT complex | • cytoplasm |
| • P-body | • mRNA catabolic process |
| • regulation of translation |
Pathways
• mRNA surveillance pathway
• RNA degradation
Protein Summary
CNOT6L is a 555-amino acid protein containing a nuclease domain (DEDD-type) that catalyzes deadenylation. It is a component of the CCR4-NOT complex and localizes to cytoplasmic processing bodies (P-bodies). The protein interacts with other complex subunits and RNA-binding proteins to regulate mRNA stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CNOT6L Knockout HEK293 Cell Line | EDJ-KQ11534 | Human | 246175 | Details Get a Quote |
| CNOT6L Knockout A-549 Cell Line | EDJ-KQ39850 | Human | 246175 | Details Get a Quote |
| CNOT6L Knockout HCT 116 Cell Line | EDJ-KQ39851 | Human | 246175 | Details Get a Quote |
| CNOT6L Knockout HeLa Cell Line | EDJ-KQ39852 | Human | 246175 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
