CPEB1
Cytoplasmic Polyadenylation Element Binding Protein 1
Gene Information Card
| Symbol | CPEB1 |
|---|---|
| Full Name | Cytoplasmic Polyadenylation Element Binding Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q25.1 |
| NCBI Gene ID | 64506 ncbi.nlm.nih.gov/gene/64506 |
| Ensembl ID | ENSG00000125870 |
| UniProt ID | Q9BZB8 |
| OMIM ID | 607342 |
| HGNC ID | 21744 |
| Aliases | CPEB, CPE-BP1, CPEB-1 |
Description
CPEB1 encodes a sequence-specific RNA-binding protein that regulates translation by controlling cytoplasmic polyadenylation. It binds to cytoplasmic polyadenylation elements (CPEs) in the 3' untranslated region of target mRNAs, promoting poly(A) tail elongation and translational activation. CPEB1 is critical for germ cell development, synaptic plasticity, and cell cycle progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ovarian cancer | CPEB1 overexpression promotes translation of oncogenic mRNAs, contributing to tumorigenesis | PMID: 21911473 |
| Breast cancer | Altered CPEB1 expression affects cell proliferation and metastasis | PMID: 25670082 |
| Infertility | CPEB1 is essential for oocyte maturation; mutations impair meiotic progression | PMID: 12021767 |
| Neurological disorders | CPEB1 regulates local translation at synapses; dysregulation linked to Fragile X syndrome and autism | PMID: 21119615 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Ovary | 8.3 | Medium |
| Testis | 15.1 | High |
| Breast | 4.2 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 6.8 | Cervical cancer cell line |
| MCF7 | 9.2 | Breast cancer cell line |
| SH-SY5Y | 14.5 | Neuroblastoma cell line |
| HEK293 | 5.3 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | Potential loss of function |
| c.245C>T | Nonsense | <0.1% | Truncation, likely loss of function |
| c.789G>A | Missense | 0.2% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the RNA-binding domain are predicted to cause loss of function.
Gain of Function (GOF)
Not well documented; overexpression in cancer may act as a gain-of-function mechanism.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • mRNA 3'-UTR binding (GO:0003730) |
| • cytoplasmic polyadenylation (GO:0006378) | • regulation of translation (GO:0006417) |
| • germ cell development (GO:0007281) |
Pathways
• mRNA surveillance pathway (KEGG: hsa03015)
• Translational regulation by CPEB (Reactome: R-HSA-5617472)
Protein Summary
CPEB1 is a 566-amino acid RNA-binding protein containing two RNA recognition motifs (RRMs) and a zinc-finger domain. It shuttles between the nucleus and cytoplasm, binding to CPE sequences in target mRNAs to regulate polyadenylation and translation. CPEB1 is highly expressed in brain and reproductive tissues, where it controls local protein synthesis essential for synaptic plasticity and oocyte maturation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPEB1 Knockout HEK293 Cell Line | EDJ-KQ12987 | Human | 64506 | Details Get a Quote |
| CPEB1 Knockout A-549 Cell Line | EDJ-KQ42226 | Human | 64506 | Details Get a Quote |
| CPEB1 Knockout HeLa Cell Line | EDJ-KQ57061 | Human | 64506 | Details Get a Quote |
| CPEB1 Knockout HCT 116 Cell Line | EDJ-KQ74003 | Human | 64506 | Details Get a Quote |
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