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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ARPC5
actin related protein 2/3 complex subunit 5
Chromosome 1 Β· 1q25.3
NCBI Gene: 10092Ensembl: ENSG00000162704.16HGNC: HGNC:708UniProt: O15511
103PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
actin filament bindingextracellular exosomefocal adhesioncell migrationneurodegenerative diseaseimmunodeficiency 113 with autoimmunity and autoinflammationcutaneous Leishmaniasiscombined immunodeficiency
✦AI Summary

ARPC5 (actin related protein 2/3 complex subunit 5) is a critical component of the Arp2/3 complex that mediates branched actin network formation essential for cellular processes including motility, phagocytosis, and immune function 1. The protein exists as two paralogous isoforms, ARPC5 and ARPC5L, which exhibit distinct tissue distribution patterns and functional roles 23. ARPC5 is predominantly required for cytoplasmic actin dynamics, while ARPC5L specifically drives nuclear actin polymerization during T cell activation 3. Loss-of-function mutations in ARPC5 cause severe immunodeficiency with autoimmunity and autoinflammation, leading to early mortality due to defective macrophage and neutrophil function 41. ARPC5-deficient immune cells fail to effectively phagocytose and eliminate intracellular bacteria, resulting in microbiota breach of intestinal mucosa and systemic inflammation 1. In cancer contexts, ARPC5 acts as an oncogene, with upregulation promoting cell proliferation, migration, and invasion in prostate cancer and multiple myeloma 56. The protein's expression correlates with poor prognosis in gliomas and is associated with immune infiltration 7. ARPC5's essential role in both developmental processes and immune system function makes it a critical regulator of cellular actin dynamics.

Sources cited
1
ARPC5 is essential for macrophage and neutrophil function in restricting microbial invasion and maintaining host-microbiota homeostasis
PMID: 41231985
2
Loss-of-function ARPC5 mutations cause severe immunodeficiency with early mortality and developmental defects
PMID: 37382373
3
ARPC5 exists as two isoforms (ARPC5A and ARPC5B) with different tissue distribution patterns
PMID: 12451597
4
ARPC5 and ARPC5L isoforms have distinct roles in cytoplasmic versus nuclear actin polymerization
PMID: 37162507
5
ARPC5 promotes prostate cancer progression through cell migration and invasion
PMID: 36881291
6
ARPC5 enhances multiple myeloma cell growth and angiogenesis
PMID: 37231521
7
ARPC5 expression correlates with poor prognosis and immune infiltration in gliomas
PMID: 37789267
Disease Associationsβ“˜21
neurodegenerative diseaseOpen Targets
0.53Moderate
immunodeficiency 113 with autoimmunity and autoinflammationOpen Targets
0.42Moderate
combined immunodeficiencyOpen Targets
0.37Weak
cutaneous LeishmaniasisOpen Targets
0.37Weak
neuroinflammatory disorderOpen Targets
0.32Weak
genetic disorderOpen Targets
0.19Weak
Miyoshi myopathyOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
gliomaOpen Targets
0.07Suggestive
HypercholesterolemiaOpen Targets
0.06Suggestive
hypothyroidismOpen Targets
0.05Suggestive
type 1 diabetes mellitusOpen Targets
0.04Suggestive
diabetic ketoacidosisOpen Targets
0.04Suggestive
laryngotracheoesophageal cleftOpen Targets
0.03Suggestive
posterior cortical atrophyOpen Targets
0.03Suggestive
neural tube defects, folate-sensitiveOpen Targets
0.03Suggestive
Spina bifida - hypospadiasOpen Targets
0.03Suggestive
spina bifida-hypospadias syndromeOpen Targets
0.03Suggestive
Immunodeficiency 113 with autoimmunity and autoinflammationUniProt
Pathogenic Variants2
NM_005717.4(ARPC5):c.23C>A (p.Ser8Ter)Pathogenic
Immunodeficiency 113 with autoimmunity and autoinflammation
β˜†β˜†β˜†β˜†2023β†’ Residue 8
NM_005717.4(ARPC5):c.11_12insTG (p.Thr5fs)Pathogenic
Immunodeficiency 113 with autoimmunity and autoinflammation
β˜†β˜†β˜†β˜†2023β†’ Residue 5
View on ClinVar β†—
Related Genes
GMFGProtein interaction100%CDC42Protein interaction100%ARPC1BProtein interaction100%ACTR3Protein interaction100%ACTR2Protein interaction100%ARPC2Protein interaction100%
Tissue Expression6 tissues
Lung
100%
Brain
86%
Bone Marrow
52%
Liver
45%
Heart
40%
Ovary
30%
Gene Interaction Network
Click a node to explore
ARPC5GMFGCDC42ARPC1BACTR3ACTR2ARPC2
PROTEIN STRUCTURE
Preparing viewer…
PDB6UHC Β· 3.90 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.72LoF Tolerant
pLIβ“˜
0.72Intermediate
Observed/Expected LoF0.28 [0.13–0.72]
RankingsWhere ARPC5 stands among ~20K protein-coding genes
  • #4,634of 20,598
    Most Researched103 Β· top quartile
  • #4,311of 5,498
    Most Pathogenic Variants2
  • #5,616of 17,882
    Most Constrained (LOEUF)0.72
Genes detectedARPC5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Branched actin networks mediate macrophage-dependent host-microbiota homeostasis.
PMID: 41231985
Science Β· 2025
1.00
2
ARPC5 deficiency leads to severe early-onset systemic inflammation and mortality.
PMID: 37382373
Dis Model Mech Β· 2023
0.90
3
ARPC5 is transcriptionally activated by KLF4, and promotes cell migration and invasion in prostate cancer via up-regulating ADAM17 : ARPC5 serves as an oncogene in prostate cancer.
PMID: 36881291
Apoptosis Β· 2023
0.80
4
ARPC5 isoforms and their regulation by calcium-calmodulin-N-WASP drive distinct Arp2/3-dependent actin remodeling events in CD4 T cells.
PMID: 37162507
Elife Β· 2023
0.70
5
Identification and characterisation of a novel human isoform of Arp2/3 complex subunit p16-ARC/ARPC5.
PMID: 12451597
Cell Motil Cytoskeleton Β· 2003
0.60