DCAF16
DDB1 and CUL4 Associated Factor 16
Gene Information Card
| Symbol | DCAF16 |
|---|---|
| Full Name | DDB1 and CUL4 Associated Factor 16 |
| Gene Type | Protein-coding |
| Chromosomal Location | 4q31.3 |
| NCBI Gene ID | 64776 ncbi.nlm.nih.gov/gene/64776 |
| Ensembl ID | ENSG00000138614 |
| UniProt ID | Q9NXF7 |
| OMIM ID | 617507 |
| HGNC ID | 24667 |
| Aliases | FLJ11286, MGC13170 |
Description
DCAF16 (DDB1 and CUL4 Associated Factor 16) encodes a substrate receptor for the CUL4-DDB1 E3 ubiquitin ligase complex. The protein contains a WD40 repeat domain that mediates interaction with DDB1 and targets specific proteins for ubiquitination and proteasomal degradation. DCAF16 is involved in cellular processes including DNA repair, cell cycle regulation, and chromatin remodeling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered ubiquitin ligase activity may disrupt degradation of tumor suppressors or oncogenes | COSMIC database reports somatic mutations in various cancers |
| Neurodevelopmental disorders | Potential role in neuronal protein homeostasis; limited direct evidence | ClinVar variants of uncertain significance |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Lymph node | 8.7 | Low |
| Brain | 6.2 | Low |
| Liver | 5.1 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.5 | Embryonic kidney cells |
| HeLa | 8.2 | Cervical cancer cells |
| K562 | 6.9 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497G>A (p.Arg166His) | Missense | 0.01% (gnomAD) | Unknown; predicted benign |
| c.1042C>T (p.Arg348Trp) | Missense | 0.005% (gnomAD) | Unknown; predicted possibly damaging |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
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 | • cytoplasm |
| • nucleus | • cul4-RING E3 ubiquitin ligase complex |
Pathways
• CUL4-DDB1 ubiquitin ligase complex pathway
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
Protein Summary
DCAF16 is a 546-amino acid protein containing seven WD40 repeats that form a beta-propeller structure. It functions as a substrate receptor for the CUL4-DDB1 E3 ubiquitin ligase, recruiting specific proteins for ubiquitination. The protein is localized in both the cytoplasm and nucleus, and its expression is highest in testis and lymph node. DCAF16 has been implicated in cancer through somatic mutations, though its precise role in disease remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCAF16 Knockout HEK293 Cell Line | EDC90528 | Human | 54876 | Details Get a Quote |
| DCAF16 Knockout A-549 Cell Line | EDJ-KQ42394 | Human | 54876 | Details Get a Quote |
| DCAF16 Knockout HCT 116 Cell Line | EDJ-KQ42395 | Human | 54876 | Details Get a Quote |
| DCAF16 Knockout HeLa Cell Line | EDC90417 | Human | 54876 | Details Get a Quote |
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