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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CELF5
CUGBP Elav-like family member 5
Chromosome 19 · 19p13.3
NCBI Gene: 60680Ensembl: ENSG00000161082.14HGNC: HGNC:14058UniProt: Q8N6W0
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingregulation of alternative mRNA splicing, via spliceosomemRNA bindingcytoplasmneurodegenerative diseaselysosomal storage diseaseAlzheimer diseasebreast carcinoma
✦AI Summary

CELF5 (CUGBP Elav-like family member 5) is an RNA-binding protein that regulates alternative mRNA splicing in a tissue-specific and developmentally controlled manner. The protein binds to muscle-specific splicing enhancer (MSE) sites and specifically activates exon 5 inclusion in cardiac troponin T (TNNT2) during heart development [UniProt]. CELF5 functions as a splicing factor that significantly regulates alternative splicing events in various tissues, including neuronal cells where it shows enrichment in astrocyte-derived extracellular vesicles with binding sites identified through motif analysis 1. In glioblastoma, CELF5 acts as a regulatory splicing factor that significantly modulates alternative splicing of GSG1L, with both positive and negative regulatory effects on different splice variants 2. The protein shows differential expression in motor neurons, where reduced CELF5 levels are associated with selective vulnerability in both spinal muscular atrophy and amyotrophic lateral sclerosis models 3. CELF5 is also upregulated in D2R-expressing neurons following morphine self-administration, suggesting roles in addiction-related transcriptomic changes 4. Additionally, CELF5 interacts with viral proteins such as HCMV UL141, potentially affecting viral DNA replication 5, and is implicated in various neurological conditions including gliomas and developmental disorders involving chromosome 19.3 duplications 67.

Sources cited
1
CELF5 binding sites identified in astrocyte-derived extracellular vesicles through motif analysis
PMID: 38663691
2
CELF5 significantly regulates alternative splicing of GSG1L in glioblastoma with both positive and negative effects
PMID: 32117422
3
CELF5 shows differential expression in motor neurons and is associated with selective vulnerability in motor neuron diseases
PMID: 28362802
4
CELF5 upregulation in D2R-expressing neurons following morphine self-administration
PMID: 36075888
5
CELF5 interacts with HCMV UL141 protein and affects viral DNA replication
PMID: 29328469
6
CELF5 identified as key RBP involved in alternative splicing in gliomas
PMID: 41361662
7
CELF5 contained in 19p13.3 microduplication associated with developmental disorders
PMID: 39875952
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.52Moderate
lysosomal storage diseaseOpen Targets
0.34Weak
Alzheimer diseaseOpen Targets
0.24Weak
breast carcinomaOpen Targets
0.04Suggestive
ependymomaOpen Targets
0.03Suggestive
glioblastoma multiformeOpen Targets
0.03Suggestive
large cell medulloblastomaOpen Targets
0.02Suggestive
acute tonsillitisOpen Targets
0.02Suggestive
ataxia telangiectasiaOpen Targets
0.02Suggestive
astrocytomaOpen Targets
0.02Suggestive
atypical teratoid rhabdoid tumorOpen Targets
0.02Suggestive
childhood supratentorial ependymomaOpen Targets
0.02Suggestive
oligodendrogliomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
small cell lung carcinomaOpen Targets
0.01Suggestive
medulloblastomaOpen Targets
0.01Suggestive
CirrhosisOpen Targets
0.01Suggestive
Fuchs endothelial corneal dystrophyOpen Targets
0.01Suggestive
nervous system diseaseOpen Targets
0.00Suggestive
brain diseaseOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CELF6Shared pathway100%CEBPDProtein interaction83%PUF60Shared pathway67%SRSF9Shared pathway50%CELF2Shared pathway50%SRSF8Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Ovary
44%
Liver
4%
Bone Marrow
1%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
CELF5CELF6CEBPDPUF60SRSF9CELF2SRSF8
PROTEIN STRUCTURE
Preparing viewer…
PDB2DNH · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.25Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.13 [0.07–0.25]
RankingsWhere CELF5 stands among ~20K protein-coding genes
  • #17,021of 20,598
    Most Researched10
  • #753of 17,882
    Most Constrained (LOEUF)0.25 · top 5%
Genes detectedCELF5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human cytomegalovirus UL141 protein interacts with CELF5 and affects viral DNA replication.
PMID: 29328469
Mol Med Rep · 2018
1.00
2
iPSC-derived healthy human astrocytes selectively load miRNAs targeting neuronal genes into extracellular vesicles.
PMID: 38663691
Mol Cell Neurosci · 2024
0.90
3
Integrated Bioinformatics Analysis of Differentially Expressed RNA-Binding Proteins in Human Gliomas.
PMID: 41361662
Cell Mol Neurobiol · 2025
0.80
4
Single nucleus transcriptomic analysis of rat nucleus accumbens reveals cell type-specific patterns of gene expression associated with volitional morphine intake.
PMID: 36075888
Transl Psychiatry · 2022
0.70
5
Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review.
PMID: 39875952
BMC Pediatr · 2025
0.60