DCUN1D3 Gene - Defective in Cullin Neddylation 1 Domain Containing 3
Comprehensive genomic and functional analysis of DCUN1D3, a regulator of cullin-RING ubiquitin ligase activity.
Gene Information Card
| Symbol | DCUN1D3 |
|---|---|
| Full Name | Defective in cullin neddylation 1 domain containing 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p12.3 |
| NCBI Gene ID | 123879 ncbi.nlm.nih.gov/gene/123879 |
| Ensembl ID | ENSG00000161981 |
| UniProt ID | Q8IY63 |
| OMIM ID | 617793 |
| HGNC ID | 28315 |
| Aliases | DCUN1L3, SCC-112, DCNL3 |
Description
DCUN1D3 (defective in cullin neddylation 1 domain containing 3) encodes a protein that functions as a component of the cullin-RING ubiquitin ligase (CRL) complex. It promotes neddylation of cullin proteins, a process essential for CRL activation and subsequent ubiquitination of target substrates. DCUN1D3 is involved in cell cycle regulation, DNA damage response, and protein homeostasis. Altered expression and mutations have been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | DCUN1D3 overexpression may enhance CRL activity, promoting degradation of tumor suppressors | COSMIC, literature |
| Lung cancer | Amplification and overexpression observed; potential oncogenic role | COSMIC, literature |
| Colorectal cancer | Upregulation associated with poor prognosis | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.2 | Low |
| Colon | 6.1 | Low |
| Breast | 5.4 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung) | 10.3 | Cancer cell line |
| HCT116 (colon) | 8.7 | Cancer cell line |
| MCF7 (breast) | 6.2 | Cancer cell line |
| HEK293 (embryonic kidney) | 7.5 | Normal-like cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.1% | Unknown; predicted possibly damaging |
| c.454G>A (p.Glu152Lys) | Missense | <0.1% | Unknown; predicted benign |
| Amplification | Copy number gain | ~2% in lung cancer | Potential gain of function |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
Amplification and overexpression in cancers suggest potential gain-of-function role.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • protein neddylation (GO:0045116) |
| • ubiquitin-dependent protein catabolic process (GO:0006511) | • cytoplasm (GO:0005737) |
Pathways
• Neddylation of cullin-RING ubiquitin ligases (Reactome: R-HSA-8951664)
• Ubiquitin-mediated proteolysis (KEGG: hsa04120)
Protein Summary
DCUN1D3 is a 230-amino acid protein containing a DCUN1 domain. It localizes to the cytoplasm and interacts with cullin proteins to facilitate their neddylation. This modification is critical for the assembly and activity of CRL complexes, which target numerous substrates for ubiquitination and proteasomal degradation. DCUN1D3 is widely expressed, with highest levels in testis and moderate levels in lung and colon. Its dysregulation is linked to oncogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCUN1D3 Knockout HEK293 Cell Line | EDJ-KQ8330 | Human | 123879 | Details Get a Quote |
| DCUN1D3 Knockout HCT 116 Cell Line | EDJ-KQ33006 | Human | 123879 | Details Get a Quote |
| DCUN1D3 Knockout A-549 Cell Line | EDJ-KQ34327 | Human | 123879 | Details Get a Quote |
| DCUN1D3 Knockout HeLa Cell Line | EDJ-KQ34329 | Human | 123879 | Details Get a Quote |
