ARRDC1

Chr 9

arrestin domain containing 1

NCBI Gene: 92714 ENSG00000197070 UniProt: Q8N5I2

The ARRDC1 protein functions as an adapter that recruits ubiquitin ligases to specific substrates and plays a role in extracellular vesicle biogenesis and negative regulation of Notch signaling. Mutations cause autosomal recessive developmental delay with seizures and microcephaly, typically presenting in infancy with neurological manifestations. This gene is highly intolerant to loss-of-function variation, suggesting complete loss of protein function has severe developmental consequences.

ResearchSummary from RefSeq, UniProt

Enables several functions, including arrestin family protein binding activity; ubiquitin protein ligase binding activity; and ubiquitin-like ligase-substrate adaptor activity. Involved in several processes, including extracellular transport; extracellular vesicle biogenesis; and negative regulation of Notch signaling pathway. Located in cytoplasmic vesicle; extracellular vesicle; and plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.20

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)