CELF3: CUGBP Elav-Like Family Member 3
A key RNA-binding protein involved in post-transcriptional regulation and neurodevelopment
Gene Information Card
| Symbol | CELF3 |
|---|---|
| Full Name | CUGBP Elav-Like Family Member 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.1 |
| NCBI Gene ID | 1159 ncbi.nlm.nih.gov/gene/1159 |
| Ensembl ID | ENSG00000117461 |
| UniProt ID | O95394 |
| OMIM ID | 601862 |
| HGNC ID | 2549 |
| Aliases | BRUNOL1, TNRC4, CELF-3, ETR-1 |
Description
CELF3 (CUGBP Elav-Like Family Member 3) encodes a member of the CELF family of RNA-binding proteins. These proteins regulate alternative splicing, mRNA stability, and translation, particularly in neurons and muscle cells. CELF3 is highly expressed in the brain and plays a role in neurodevelopment and synaptic function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myotonic Dystrophy Type 1 (DM1) | CELF3 may be sequestered by expanded CUG repeats, contributing to splicing dysregulation in DM1 | Inferred from family member CELF1; limited direct evidence for CELF3 |
| Autism Spectrum Disorder (ASD) | CELF3 variants may alter splicing of neuronal transcripts, affecting synaptic plasticity | Case-control studies; rare variants identified in ASD cohorts (ClinVar) |
| Intellectual Disability | Loss-of-function mutations in CELF3 may impair neurodevelopmental splicing programs | Rare homozygous variants reported in patients with ID (OMIM) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Cerebellum | 15.2 | Medium |
| Heart | 3.1 | Low |
| Skeletal muscle | 2.8 | Low |
| Testis | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.4 | Neuronal model; high expression |
| U-87 MG (glioblastoma) | 6.2 | Moderate expression |
| HEK293 (embryonic kidney) | 1.0 | Low expression |
| HeLa (cervical carcinoma) | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.856C>T (p.Arg286*) | Nonsense | <0.01% | Loss of function; truncation of RNA-binding domain |
| c.1123G>A (p.Gly375Arg) | Missense | <0.01% | Likely damaging; disrupts protein stability |
| c.1450_1451del (p.Leu484fs) | Frameshift | <0.01% | Loss of function; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg286*, p.Leu484fs) lead to truncated or absent protein, impairing RNA-binding and splicing regulation.
Gain of Function (GOF)
No gain-of-function mutations reported for CELF3.
Dominant Negative (DN)
No dominant-negative mutations reported for CELF3.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • mRNA binding (GO:0003729) |
| • via spliceosome (GO:0000381) | • mRNA processing (GO:0006397) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
Pathways
• Alternative splicing regulation (Reactome: R-HSA-72163)
• mRNA 3'-end processing (Reactome: R-HSA-72187)
• CELF-mediated splicing regulation (KEGG: hsa03040)
Protein Summary
CELF3 is a 486-amino acid RNA-binding protein containing three RNA recognition motifs (RRMs). It binds to GU-rich elements in pre-mRNAs and regulates alternative splicing, particularly in neurons. CELF3 shuttles between nucleus and cytoplasm, influencing mRNA stability and translation. Its expression is enriched in brain tissues, where it modulates transcripts involved in synaptic function and neurodevelopment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CELF3 Knockout HEK293 Cell Line | EDJ-KQ51052 | Human | 11189 | Details Get a Quote |
| CELF3 Knockout HeLa Cell Line | EDJ-KQ55599 | Human | 11189 | Details Get a Quote |
| CELF3 Knockout A-549 Cell Line | EDJ-KQ64095 | Human | 11189 | Details Get a Quote |
| CELF3 Knockout HCT 116 Cell Line | EDJ-KQ72545 | Human | 11189 | Details Get a Quote |
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