CELF5: CUGBP Elav-Like Family Member 5
RNA-binding protein involved in alternative splicing regulation
Gene Information Card
| Symbol | CELF5 |
|---|---|
| Full Name | CUGBP Elav-like family member 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q8N6T0 |
| OMIM ID | 612859 |
| HGNC ID | 14056 |
| Aliases | BRUNOL5, CELF-5, NAPOR-2 |
Description
CELF5 (CUGBP Elav-like family member 5) is a protein-coding gene located on chromosome 19p13.3. It encodes an RNA-binding protein belonging to the CELF family, which regulates alternative splicing, mRNA stability, and translation. CELF5 is predominantly expressed in the nervous system and plays a role in neuronal development and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myotonic Dystrophy Type 1 | Potential dysregulation of alternative splicing targets | Limited evidence; inferred from CELF family function |
| Neurodevelopmental disorders | Altered RNA processing in neurons | Case studies; not fully established |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 3.2 | Low |
| Heart | 1.1 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Neuronal model |
| HEK293 | 2.3 | Low expression |
| HeLa | 1.0 | Minimal |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | Rare | Unknown functional impact |
| c.567delA (p.Lys189fs) | Frameshift | Very rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.567delA) likely cause loss of RNA-binding activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not documented for CELF5.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • mRNA binding (GO:0003729) |
| • via spliceosome (GO:0000381) | • Nucleus (GO:0005634) |
| • Cytoplasm (GO:0005737) |
Pathways
• Alternative splicing regulation
• mRNA surveillance pathway
Protein Summary
CELF5 is a 486-amino acid RNA-binding protein containing three RNA recognition motifs (RRMs). It binds to GU-rich elements in pre-mRNA and regulates alternative splicing, particularly in neurons. The protein shuttles between nucleus and cytoplasm, influencing mRNA stability and translation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CELF5 Knockout HEK293 Cell Line | EDJ-KQ12856 | Human | 60680 | Details Get a Quote |
| CELF5 Knockout HCT 116 Cell Line | EDJ-KQ42019 | Human | 60680 | Details Get a Quote |
| CELF5 Knockout HeLa Cell Line | EDJ-KQ56989 | Human | 60680 | Details Get a Quote |
| CELF5 Knockout A-549 Cell Line | EDJ-KQ65492 | Human | 60680 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
