DCAF11
DDB1 and CUL4 Associated Factor 11
Gene Information Card
| Symbol | DCAF11 |
|---|---|
| Full Name | DDB1 and CUL4 Associated Factor 11 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 80344 ncbi.nlm.nih.gov/gene/80344 |
| Ensembl ID | ENSG00000100842 |
| UniProt ID | Q8TEB1 |
| OMIM ID | 613317 |
| HGNC ID | 20236 |
| Aliases | WDR23, PRO2389, MGC12966 |
Description
DCAF11 (DDB1 and CUL4 Associated Factor 11) encodes a WD40-repeat-containing protein that functions as a substrate receptor for the CUL4-DDB1 E3 ubiquitin ligase complex. It is involved in ubiquitination and proteasomal degradation of target proteins, including the tumor suppressor p53, and plays roles in cell cycle regulation, DNA damage response, and chromatin remodeling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | DCAF11 regulates p53 stability via ubiquitination; altered expression may affect tumor suppression. | COSMIC; PMID: 23541922 |
| Neurodevelopmental disorders | Mutations in DCAF11 have been associated with intellectual disability and developmental delay. | ClinVar; PMID: 31036917 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Lung | 6.1 | Low |
| Liver | 5.3 | Low |
| Kidney | 7.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | High expression |
| HeLa | 8.5 | Medium expression |
| K562 | 6.3 | Low expression |
| MCF7 | 7.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339*) | Nonsense | <0.01% | Loss of function; associated with neurodevelopmental disorder |
| c.1246G>A (p.Gly416Arg) | Missense | <0.01% | Unknown; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• p53 signaling pathway (Reactome: R-HSA-5633007)
Protein Summary
DCAF11 is a 546-amino-acid protein containing multiple WD40 repeats that mediate substrate recognition. It acts as a substrate receptor for the CUL4-DDB1 E3 ubiquitin ligase complex, targeting proteins such as p53 for ubiquitination and degradation. The protein is localized to the nucleus and cytoplasm and is involved in cell cycle control and DNA damage response.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCAF11 Knockout HEK293 Cell Line | EDJ-KQ3877 | Human | 80344 | Details Get a Quote |
| DCAF11 Knockout A-549 Cell Line | EDJ-KQ26085 | Human | 80344 | Details Get a Quote |
| DCAF11 Knockout HeLa Cell Line | EDJ-KQ26087 | Human | 80344 | Details Get a Quote |
| DCAF11 Knockout HCT 116 Cell Line | EDJ-KQ24734 | Human | 80344 | Details Get a Quote |
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