DCUN1D5 Gene - Defective in Cullin Neddylation 1 Domain Containing 5
Comprehensive genomic and proteomic analysis of DCUN1D5, a component of the cullin-RING ubiquitin ligase neddylation pathway.
Gene Information Card
| Symbol | DCUN1D5 |
|---|---|
| Full Name | Defective in cullin neddylation 1 domain containing 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q22.3 |
| NCBI Gene ID | 84259 ncbi.nlm.nih.gov/gene/84259 |
| Ensembl ID | ENSG00000149269 |
| UniProt ID | Q9BTE7 |
| OMIM ID | 617511 |
| HGNC ID | 20322 |
| Aliases | FLJ10718, SCC-112, SCC112 |
Description
DCUN1D5 (defective in cullin neddylation 1 domain containing 5) encodes a protein that functions as a component of the DCN1-like protein family. These proteins act as co-E3 ligases in the neddylation of cullin proteins, a process essential for the activation of cullin-RING ubiquitin ligases (CRLs). DCUN1D5 promotes the conjugation of NEDD8 to cullins, thereby regulating ubiquitin-dependent protein degradation and influencing cell cycle progression, signal transduction, and tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | DCUN1D5 overexpression may enhance CRL activity, promoting degradation of tumor suppressors. | COSMIC; literature |
| Hepatocellular carcinoma | Upregulation of DCUN1D5 correlates with poor prognosis; may drive proliferation via neddylation. | PubMed; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Bone marrow | 9.8 | Medium |
| Brain | 6.3 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 12.3 | High expression |
| HepG2 | 10.5 | Medium expression |
| K562 | 8.7 | Medium expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Ile) | Missense | <0.01% | Unknown; predicted benign |
| c.487G>A (p.Gly163Ser) | Missense | <0.01% | Unknown; predicted benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
Overexpression in tumors suggests potential gain-of-function role in neddylation.
Dominant Negative (DN)
Not described.
View complete mutation data:
Gene Ontology (GO)
| • protein binding (GO:0005515) | • protein neddylation (GO:0045116) |
| • cytosol (GO:0005829) | • nucleus (GO:0005634) |
Pathways
• Neddylation of cullin-RING ubiquitin ligases (Reactome: R-HSA-8951664)
• Ubiquitin-mediated proteolysis (KEGG: hsa04120)
Protein Summary
DCUN1D5 is a 259-amino acid protein containing a DCN1-like domain. It localizes to the cytosol and nucleus and interacts with cullins to facilitate NEDD8 conjugation. This neddylation is critical for the assembly and activity of CRLs, which target numerous substrates for proteasomal degradation. DCUN1D5 is broadly expressed, with highest levels in testis and lymphoid tissues, and is implicated in cancer through dysregulation of the ubiquitin-proteasome system.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCUN1D5 Knockout HEK293 Cell Line | EDJ-KQ10036 | Human | 84259 | Details Get a Quote |
| DCUN1D5 Knockout A-549 Cell Line | EDJ-KQ37034 | Human | 84259 | Details Get a Quote |
| DCUN1D5 Knockout HCT 116 Cell Line | EDJ-KQ37035 | Human | 84259 | Details Get a Quote |
| DCUN1D5 Knockout HeLa Cell Line | EDJ-KQ37036 | Human | 84259 | Details Get a Quote |