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ARPC5

Function

Component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:9230079). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:9230079). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:29925947). The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947).

Involvement in disease

Immunodeficiency 113 with autoimmunity and autoinflammation

IMD113

An autosomal recessive immunologic disorder characterized by recurrent and severe infections, early-onset autoimmunity, inflammation, and facial dysmorphism. Features of autoimmunity and autoinflammation include hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Polyubiquitinated by RNF128 with 'Lys-63'-linked chains, leading to proteasomal degradation.

Sequence Similarities

Belongs to the ARPC5 family.

Cellular localization

Alternative names

ARC16, ARPC5, Actin-related protein 2/3 complex subunit 5, Arp2/3 complex 16 kDa subunit, p16-ARC

swissprot:O15511 entrezGene:10092 omim:604227