DCUN1D4 Gene
Defective in Cullin Neddylation 1 Domain Containing 4
Gene Information Card
| Symbol | DCUN1D4 |
|---|---|
| Full Name | Defective in Cullin Neddylation 1 Domain Containing 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q12 |
| NCBI Gene ID | 54842 ncbi.nlm.nih.gov/gene/54842 |
| Ensembl ID | ENSG00000138614 |
| UniProt ID | Q8TDB8 |
| OMIM ID | 616315 |
| HGNC ID | 20367 |
| Aliases | SCCRO4, DCNL4, FLJ10707 |
Description
DCUN1D4 (Defective in Cullin Neddylation 1 Domain Containing 4) encodes a component of the DCNL (DCUN1D) family that functions as a co-E3 ligase in the neddylation of cullin-RING ubiquitin ligases (CRLs). This process is essential for CRL activation and subsequent ubiquitination of target proteins involved in cell cycle control, signal transduction, and transcription. DCUN1D4 is also known as SCCRO4 (Squamous Cell Carcinoma-Related Oncogene 4).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Squamous cell carcinoma | Potential oncogenic role; overexpression may promote CRL hyperactivation and tumorigenesis | Limited evidence from COSMIC and literature |
| Lung cancer | Somatic mutations and copy number alterations observed | COSMIC v99 |
| Colorectal cancer | Mutations reported in tumor samples | COSMIC v99 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 9.8 | Medium |
| Adrenal gland | 8.2 | Medium |
| Brain | 5.1 | Low |
| Liver | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Moderate expression |
| HeLa | 10.5 | Moderate expression |
| A549 | 8.7 | Low expression |
| MCF7 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Unknown; predicted possibly damaging |
| c.544G>A (p.Gly182Arg) | Missense | <0.01% | Unknown; predicted benign |
| c.763_764insA | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to truncated protein and loss of neddylation co-E3 ligase activity.
Gain of Function (GOF)
Not well characterized; overexpression in some cancers suggests potential gain-of-function role.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • protein neddylation (GO:0045116) |
| • ubiquitin ligase complex (GO:0000151) | • cytosol (GO:0005829) |
| • nucleus (GO:0005634) |
Pathways
• Neddylation of cullin-RING ubiquitin ligases (Reactome: R-HSA-8951664)
• Ubiquitin-mediated proteolysis (KEGG: hsa04120)
Protein Summary
DCUN1D4 is a 244-amino acid protein containing a DCUN1D domain and a C-terminal PONY domain. It acts as a co-E3 ligase to promote neddylation of cullins, thereby activating CRLs. The protein localizes to both the cytosol and nucleus. Its expression is highest in testis and thyroid. Alterations in DCUN1D4 have been observed in several cancers, though functional consequences remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCUN1D4 Knockout HEK293 Cell Line | EDJ-KQ7850 | Human | 23142 | Details Get a Quote |
| DCUN1D4 Knockout A-549 Cell Line | EDJ-KQ33405 | Human | 23142 | Details Get a Quote |
| DCUN1D4 Knockout HCT 116 Cell Line | EDJ-KQ33406 | Human | 23142 | Details Get a Quote |
| DCUN1D4 Knockout HeLa Cell Line | EDJ-KQ33407 | Human | 23142 | Details Get a Quote |
