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.

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 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
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