CNOT10: CCR4-NOT Transcription Complex Subunit 10
A key component of the CCR4-NOT complex involved in mRNA deadenylation and gene expression regulation.
Gene Information Card
| Symbol | CNOT10 |
|---|---|
| Full Name | CCR4-NOT transcription complex subunit 10 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p22.3 |
| NCBI Gene ID | 25901 ncbi.nlm.nih.gov/gene/25901 |
| Ensembl ID | ENSG00000182899 |
| UniProt ID | Q9H9A5 |
| OMIM ID | 618078 |
| HGNC ID | 23896 |
| Aliases | AD-005, C3orf17, NOT10 |
Description
CNOT10 encodes a subunit of the CCR4-NOT complex, a major eukaryotic deadenylase that regulates mRNA stability and translation. The protein directly interacts with CNOT11 and is essential for complex integrity and function in gene expression control.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | CNOT10 mutations impair mRNA deadenylation, leading to dysregulated gene expression in neurons | PMID: 31036916 |
| Developmental delay | Loss-of-function variants in CNOT10 are associated with neurodevelopmental phenotypes | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Heart | 6.1 | Low |
| Liver | 5.4 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | Moderate expression |
| HeLa | 8.7 | Moderate expression |
| K562 | 6.5 | Low expression |
| HepG2 | 5.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109Trp) | missense | <0.01% | Impaired protein stability |
| c.1000delC (p.Leu334Trpfs*12) | frameshift | <0.01% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated or absent CNOT10 protein, disrupting CCR4-NOT complex activity.
Gain of Function (GOF)
No gain-of-function mutations reported for CNOT10.
Dominant Negative (DN)
Missense mutations may produce a dominant-negative effect by interfering with complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • CCR4-NOT complex (GO:0030014) |
| • magnesium ion binding (GO:0000287) | • nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289) |
| • nucleus (GO:0005634) |
Pathways
• mRNA deadenylation (REACT_1762)
• CCR4-NOT complex mediated mRNA decay (R-HSA-429958)
Protein Summary
CNOT10 is a 669-amino acid protein that serves as a scaffold within the CCR4-NOT complex. It contains a NOT10 domain and interacts with CNOT11 to stabilize the complex. The protein is ubiquitously expressed and plays a critical role in post-transcriptional gene regulation by shortening mRNA poly(A) tails.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CNOT10 Knockout HEK293 Cell Line | EDJ-KQ8292 | Human | 25904 | Details Get a Quote |
| CNOT10 Knockout A-549 Cell Line | EDJ-KQ34253 | Human | 25904 | Details Get a Quote |
| CNOT10 Knockout HCT 116 Cell Line | EDJ-KQ34254 | Human | 25904 | Details Get a Quote |
| CNOT10 Knockout HeLa Cell Line | EDJ-KQ34255 | Human | 25904 | Details Get a Quote |
