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9 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DCAF5
DDB1 and CUL4 associated factor 5
Chromosome 14 · 14q24.1
NCBI Gene: 8816Ensembl: ENSG00000139990.18HGNC: HGNC:20224UniProt: Q8TBB7
54PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
Cul4-RING E3 ubiquitin ligase complexprotein bindingcytoplasmnegative regulation of fatty acid biosynthetic processneurodegenerative diseasetype 2 diabetes mellitussmoking initiationmusculoskeletal system disease
✦AI Summary

DCAF5 (DDB1 and CUL4 associated factor 5) functions as a substrate receptor for the CUL4-DDB1 E3 ubiquitin-protein ligase complex (CRL4), mediating ubiquitination of methylated non-histone proteins including SOX2, DNMT1, and E2F1 12. The CRL4-DCAF5 complex recognizes methylated lysine residues through interaction with L3MBTL3, a methyl-binding protein, to target substrates for proteasomal degradation 123. This mechanism regulates stem cell self-renewal and pluripotency; for example, knockdown of DCAF5 stabilizes SOX2 protein and rescues embryonic stem cell defects 2. DCAF5 also performs quality-control functions for SWI/SNF chr14-remodeling complexes, promoting degradation of incompletely assembled complexes 4. Therapeutically, DCAF5 inhibition suppresses SMARCB1-mutant cancers by allowing reaccumulation of SWI/SNF complexes and restoration of tumor-suppressor function in vivo 4. Disease associations include potential involvement in congenital heart defects and intellectual disability through haploinsufficiency 5, and rare genetic variants associated with neuropeptide Y autoantibodies in type 1 diabetes 6. These findings establish DCAF5 as a critical regulator of protein stability and a potential therapeutic target in cancer.

Sources cited
1
DCAF5 is a substrate receptor for CRL4 complex that mediates ubiquitination and degradation of methylated DNMT1 and E2F1
PMID: 29691401
2
CRL4-DCAF5 complex recruits to methylated SOX2 through L3MBTL3 to promote SOX2 proteolysis and regulates stem cell self-renewal
PMID: 30442713
3
DCAF5 component of CRL4 complex recognizes methylated lysine residues and targets methylated proteins for proteolysis in stem cell maintenance
PMID: 38396925
4
DCAF5 has quality-control function for SWI/SNF complexes; targeting DCAF5 suppresses SMARCB1-mutant cancers by stabilizing SWI/SNF and restoring function
PMID: 38538798
5
DCAF5 haploinsufficiency through 14q24 deletions is associated with congenital heart defects, brachydactyly, and mild intellectual disability
PMID: 24357125
6
DCAF5 genetic variants are associated with neuropeptide Y autoantibody levels in type 1 diabetes
PMID: 35627254
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.46Moderate
type 2 diabetes mellitusOpen Targets
0.35Weak
smoking initiationOpen Targets
0.32Weak
musculoskeletal system diseaseOpen Targets
0.31Weak
intelligenceOpen Targets
0.31Weak
Limb painOpen Targets
0.28Weak
HeadacheOpen Targets
0.28Weak
Abdominal painOpen Targets
0.26Weak
physical activityOpen Targets
0.25Weak
fungal infectious diseaseOpen Targets
0.24Weak
heart diseaseOpen Targets
0.19Weak
diabetes mellitusOpen Targets
0.15Weak
smoking cessationOpen Targets
0.14Weak
neurotic disorderOpen Targets
0.13Weak
response to statinOpen Targets
0.12Weak
hypertensionOpen Targets
0.10Weak
response to xenobiotic stimulusOpen Targets
0.10Weak
Abnormality of refractionOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GLMNProtein interaction100%DCAF1Protein interaction100%DET1Protein interaction100%CRBNProtein interaction100%DTLProtein interaction100%ERCC8Protein interaction99%
Tissue Expression6 tissues
Heart
100%
Lung
78%
Liver
75%
Ovary
72%
Brain
59%
Bone Marrow
58%
Gene Interaction Network
Click a node to explore
DCAF5GLMNDCAF1DET1CRBNDTLERCC8
PROTEIN STRUCTURE
Preparing viewer…
PDB8TL6 · 2.63 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.19Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.11 [0.07–0.19]
RankingsWhere DCAF5 stands among ~20K protein-coding genes
  • #8,304of 20,598
    Most Researched54
  • #400of 17,882
    Most Constrained (LOEUF)0.19 · top 5%
Genes detectedDCAF5
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Targeting DCAF5 suppresses SMARCB1-mutant cancer by stabilizing SWI/SNF.
PMID: 38538798
Nature · 2024
1.00
2
Methylated DNMT1 and E2F1 are targeted for proteolysis by L3MBTL3 and CRL4
PMID: 29691401
Nat Commun · 2018
0.89
3
Lysine Methylation-Dependent Proteolysis by the Malignant Brain Tumor (MBT) Domain Proteins.
PMID: 38396925
Int J Mol Sci · 2024
0.78
4
Genetic Variants Associated with Neuropeptide Y Autoantibody Levels in Newly Diagnosed Individuals with Type 1 Diabetes.
PMID: 35627254
Genes (Basel) · 2022
0.67
5
Author Correction: Targeting DCAF5 suppresses SMARCB1-mutant cancer by stabilizing SWI/SNF.
PMID: 38684813
Nature · 2024
0.56