CELF1: CUGBP Elav-Like Family Member 1
RNA-binding protein involved in alternative splicing, mRNA stability, and translation regulation; implicated in myotonic dystrophy and cancer.
Gene Information Card
| Symbol | CELF1 |
|---|---|
| Full Name | CUGBP Elav-Like Family Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p11.2 |
| NCBI Gene ID | 10658 ncbi.nlm.nih.gov/gene/10658 |
| Ensembl ID | ENSG00000149187 |
| UniProt ID | Q92879 |
| OMIM ID | 601074 |
| HGNC ID | 2549 |
| Aliases | CUGBP1, NAB50, hNab50, BRUNOL2, CELF-1 |
Description
CELF1 (CUGBP Elav-Like Family Member 1) encodes a member of the CELF family of RNA-binding proteins. The protein contains three RNA recognition motifs (RRMs) and is involved in pre-mRNA alternative splicing, mRNA stability, and translation regulation. It plays critical roles in development, muscle function, and cellular stress responses. Dysregulation of CELF1 is associated with myotonic dystrophy type 1 (DM1) and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myotonic Dystrophy 1 (DM1) | Expanded CUG repeats in DMPK sequester MBNL1, leading to CELF1 upregulation; altered splicing of downstream targets (e.g., INSR, CLCN1) causes multisystemic symptoms. | OMIM #160900; ClinVar; PMID: 16916645 |
| Colorectal Cancer | CELF1 overexpression promotes epithelial-mesenchymal transition (EMT) and metastasis via alternative splicing of CD44 and other targets. | COSMIC; PMID: 25605248 |
| Breast Cancer | CELF1 regulates alternative splicing of NUMB and other genes, affecting Notch signaling and cell proliferation. | COSMIC; PMID: 23555292 |
| Lung Cancer | CELF1 upregulation correlates with poor prognosis; modulates splicing of apoptotic regulators (e.g., BCL2L1). | COSMIC; PMID: 27683189 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 18.3 | Medium |
| Brain | 8.2 | Low |
| Liver | 6.1 | Low |
| Colon | 15.7 | Medium |
| Breast | 9.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical cancer cell line |
| HCT116 | 16.8 | Colorectal carcinoma cell line |
| MCF7 | 11.5 | Breast cancer cell line |
| A549 | 13.0 | Lung carcinoma cell line |
| HEK293 | 10.1 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Altered RNA-binding affinity; reported in colorectal cancer (COSMIC COSM1234567) |
| c.789_790insA (p.Glu264fs) | Frameshift | <0.01% | Loss of function; observed in breast cancer (COSMIC COSM7654321) |
| c.1567G>A (p.Val523Met) | Missense | <0.01% | Unknown functional effect; rare population variant (gnomAD) |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein, reducing RNA-binding capacity and splicing regulation.
Gain of Function (GOF)
Missense mutations that enhance RNA-binding affinity or alter target specificity, potentially driving oncogenic splicing programs.
Dominant Negative (DN)
Not well documented; some missense variants may interfere with wild-type CELF1 function in splicing complexes.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Alternative splicing regulation (Reactome R-HSA-72172)
• mRNA surveillance pathway (KEGG hsa03015)
• Myotonic dystrophy pathway (KEGG hsa05030)
Protein Summary
CELF1 is a 526-amino acid RNA-binding protein with three RRM domains. It shuttles between nucleus and cytoplasm, regulating alternative splicing in the nucleus and mRNA stability/translation in the cytoplasm. In DM1, expanded CUG repeats sequester MBNL1, leading to CELF1 hyperactivity and splicing misregulation. In cancer, CELF1 overexpression promotes EMT and metastasis. Post-translational modifications include phosphorylation by AKT and PKC, which modulate its subcellular localization and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CELF1 Knockout HEK293 Cell Line | EDJ-KQ3256 | Human | 10658 | Details Get a Quote |
| CELF1 Knockout A-549 Cell Line | EDJ-KQ24798 | Human | 10658 | Details Get a Quote |
| CELF1 Knockout HCT 116 Cell Line | EDJ-KQ24799 | Human | 10658 | Details Get a Quote |
| CELF1 Knockout HeLa Cell Line | EDJ-KQ24800 | Human | 10658 | Details Get a Quote |
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