DCAF5
DDB1 and CUL4 Associated Factor 5
Gene Information Card
| Symbol | DCAF5 |
|---|---|
| Full Name | DDB1 and CUL4 Associated Factor 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.2 |
| NCBI Gene ID | 8816 ncbi.nlm.nih.gov/gene/8816 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9H3P2 |
| OMIM ID | 612805 |
| HGNC ID | 20266 |
| Aliases | WDR22, DCAF5, BM-016 |
Description
DCAF5 (DDB1 and CUL4 Associated Factor 5) encodes a WD repeat-containing protein that functions as a substrate receptor for the CUL4-DDB1 E3 ubiquitin ligase complex. It is involved in ubiquitination and degradation of target proteins, playing roles in cell cycle regulation, DNA repair, and chromatin remodeling. DCAF5 is also known as WDR22.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered DCAF5 expression may affect ubiquitination of tumor suppressors or oncogenes | COSMIC, literature |
| Intellectual disability | Mutations in DCAF5 have been associated with neurodevelopmental phenotypes | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| HeLa | 8.5 | Moderate expression |
| K562 | 6.0 | Low expression |
| A549 | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function |
| c.890A>G (p.Tyr297Cys) | Missense | <0.1% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) are predicted to cause loss of function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity | • protein binding |
| • WD40-repeat domain binding | • DDB1 binding |
| • CUL4A-RING E3 ubiquitin ligase complex | • chromatin remodeling |
| • cell cycle |
Pathways
• CUL4-DDB1 E3 ubiquitin ligase pathway
• Ubiquitin mediated proteolysis
Protein Summary
DCAF5 is a 546-amino acid protein containing multiple WD40 repeats that mediate protein-protein interactions. It serves as a substrate receptor for the CUL4-DDB1 E3 ubiquitin ligase complex, targeting specific proteins for ubiquitination and proteasomal degradation. DCAF5 is involved in cellular processes including cell cycle progression, DNA damage response, and chromatin regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCAF5 Knockout HEK293 Cell Line | EDJ-KQ5683 | Human | 8816 | Details Get a Quote |
| DCAF5 Knockout A-549 Cell Line | EDJ-KQ30356 | Human | 8816 | Details Get a Quote |
| DCAF5 Knockout HCT 116 Cell Line | EDJ-KQ30358 | Human | 8816 | Details Get a Quote |
| DCAF5 Knockout HeLa Cell Line | EDJ-KQ30359 | Human | 8816 | Details Get a Quote |
