CPEB3
Cytoplasmic Polyadenylation Element Binding Protein 3
Gene Information Card
| Symbol | CPEB3 |
|---|---|
| Full Name | cytoplasmic polyadenylation element binding protein 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q23.32 |
| NCBI Gene ID | 22849 ncbi.nlm.nih.gov/gene/22849 |
| Ensembl ID | ENSG00000107864 |
| UniProt ID | Q8NE35 |
| OMIM ID | 610606 |
| HGNC ID | 21745 |
| Aliases | CPEB-3, KIAA0940 |
Description
CPEB3 encodes a member of the cytoplasmic polyadenylation element binding protein family. This protein binds to specific mRNA sequences and regulates translation by controlling polyadenylation-induced translation initiation. It is involved in synaptic plasticity, learning, and memory. CPEB3 also plays a role in cellular stress responses and has been implicated in cancer and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Loss-of-function mutations impair synaptic plasticity and memory formation | ClinVar |
| Epilepsy | Altered CPEB3 expression affects neuronal excitability | OMIM |
| Colorectal cancer | CPEB3 downregulation promotes tumorigenesis via defective mRNA translation | COSMIC |
| Glioblastoma | CPEB3 overexpression linked to tumor progression | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | High |
| Testis | 8.7 | Medium |
| Lung | 4.1 | Low |
| Colon | 3.5 | Low |
| Liver | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 12.3 | High expression |
| HEK293 (embryonic kidney) | 6.8 | Moderate expression |
| HCT116 (colorectal carcinoma) | 4.5 | Low expression |
| A549 (lung carcinoma) | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Loss of function |
| c.782G>A (p.Arg261His) | Missense | 0.01% | Unknown |
| c.1234_1235del (p.Lys412fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing translational regulation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA 3'-UTR binding |
| • cytoplasmic polyadenylation element binding | • regulation of translation |
| • synaptic plasticity | • positive regulation of translation |
Pathways
• Cytoplasmic polyadenylation element binding protein (CPEB) pathway
• mRNA surveillance pathway
• Regulation of translation initiation
Protein Summary
CPEB3 is a 729-amino acid RNA-binding protein that contains two RNA recognition motifs (RRMs) and a zinc finger domain. It binds to cytoplasmic polyadenylation elements (CPEs) in the 3' untranslated regions of target mRNAs, promoting polyadenylation and translation. CPEB3 is highly expressed in the brain and is critical for long-term potentiation and memory consolidation. It also functions in the testis and other tissues, and its dysregulation is associated with cancer and neurological diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPEB3 Knockout HEK293 Cell Line | EDJ-KQ3020 | Human | 22849 | Details Get a Quote |
| CPEB3 Knockout HCT 116 Cell Line | EDJ-KQ24236 | Human | 22849 | Details Get a Quote |
| CPEB3 Knockout HeLa Cell Line | EDJ-KQ24237 | Human | 22849 | Details Get a Quote |
| CPEB3 Knockout A-549 Cell Line | EDJ-KQ64143 | Human | 22849 | Details Get a Quote |
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