DCUN1D3

Chr 16

defective in cullin neddylation 1 domain containing 3

Also known as: 44M2.4, DCNL3, SCCRO3

NCBI Gene: 123879 ENSG00000188215 UniProt: Q8IWE4

The protein facilitates neddylation of cullin proteins, which regulates SCF ubiquitin E3 ligase complexes involved in cell cycle progression and DNA damage response. Mutations cause autosomal dominant developmental delay with seizures and dysmorphic features, typically presenting in infancy or early childhood. The gene is highly constrained against loss-of-function variants (pLI = 0.87, LOEUF = 0.43), consistent with its essential role in cellular regulation.

ResearchSummary from RefSeq, UniProt

Enables cullin family protein binding activity. Involved in several processes, including negative regulation of G1/S transition of mitotic cell cycle; regulation of protein neddylation; and response to UV-C. Located in several cellular components, including cytosol; nucleoplasm; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.43

LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (1)

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