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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CDC42EP1
CDC42 effector protein 1
Chromosome 22 · 22q13.1
NCBI Gene: 11135Ensembl: ENSG00000128283.8HGNC: HGNC:17014UniProt: Q00587
73PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingregulation of cell shapeplasma membranefocal adhesionAlzheimer diseasemultiple sclerosisneurodegenerative diseaseParkinson disease
✦AI Summary

CDC42EP1 (CDC42 effector protein 1) is a Cdc42-binding protein that regulates actin cytoskeleton organization and cell morphology. The protein localizes to focal adhesions, adherens junctions, and the plasma membrane, where it associates with septin-7, villin, and myosin IIA to coordinate cytoskeletal dynamics 1. In epithelial cells, CDC42EP1 restricts contractility and motility while promoting lateral F-actin cortex development and columnar cell morphology; its depletion stimulates stress fibers and cell migration 2. During Salmonella infection, CDC42EP1 is rapidly recruited to bacterial entry sites and subsequently associates with Salmonella-containing vacuoles, contributing to intracellular bacterial replication rather than initial invasion 3. CDC42EP1 dysfunction associates with multiple diseases: it is downregulated in oral squamous cell carcinoma 4, dysregulated in the circRNA/miRNA axis promoting epithelial-mesenchymal transition (EMT) in endometriosis 5, and identified as a prominent cancer-predisposing mutation in parathyroid carcinoma 6. Additionally, CDC42EP1 represents part of a ten-gene signature associated with EBV reactivation and poor prognosis in nasopharyngeal carcinoma through EMT and metabolic reprogramming pathways 7. These findings establish CDC42EP1 as a key regulator of cytoskeletal architecture with important roles in infection responses, epithelial homeostasis, and cancer progression.

Sources cited
1
CDC42EP1 is recruited to invading Salmonella, associates with SEPTIN-7 and villin, and contributes to intracellular bacterial growth and replication
PMID: 37877586
2
CDC42EP1 is part of a ten-gene signature associated with EBV reactivation and poor prognosis in nasopharyngeal carcinoma through EMT and metabolic pathways
PMID: 40457434
3
CDC42EP1 is a Cdc42 effector protein involved in cytoskeletal remodeling, cell shape, directed migration, angiogenesis, and cancer-associated processes
PMID: 27913681
4
CDC42EP1 and related lncRNA (lnc-CDC42EP1) are significantly downregulated in oral squamous cell carcinoma samples
PMID: 39002033
5
CDC42EP1 (Borg5) limits contractility, cell-cell adhesion tension and motility in epithelial MDCK cells and interacts with myosin IIA
PMID: 39503295
6
CDC42EP1 is upregulated and promotes EMT through the hsa_circ_0005991/miR-30b-3p/Cdc42EP1 axis in ovarian endometriosis
PMID: 37757976
7
CDC42EP1 is identified as a prominent cancer-predisposing mutation in 43.5% of parathyroid carcinoma samples
PMID: 32574388
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.26Weak
multiple sclerosisOpen Targets
0.26Weak
lysosomal storage diseaseOpen Targets
0.26Weak
neurodegenerative diseaseOpen Targets
0.26Weak
Parkinson diseaseOpen Targets
0.26Weak
rheumatoid arthritisOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.07Suggestive
SepsisOpen Targets
0.04Suggestive
breast carcinomaOpen Targets
0.03Suggestive
interstitial lung diseaseOpen Targets
0.03Suggestive
Duane retraction syndromeOpen Targets
0.02Suggestive
periodontitisOpen Targets
0.02Suggestive
arthritisOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
oral squamous cell carcinomaOpen Targets
0.01Suggestive
germ cell tumorOpen Targets
0.01Suggestive
infertilityOpen Targets
0.01Suggestive
Ovarian EndometriosisOpen Targets
0.01Suggestive
pharyngeal squamous cell carcinomaOpen Targets
0.01Suggestive
squamous cell carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CDC42Protein interaction95%RHOQProtein interaction91%CDC42EP3Shared pathway80%C15orf62Shared pathway80%CDC42EP5Shared pathway80%CDC42EP4Shared pathway80%
Tissue Expression6 tissues
Liver
100%
Ovary
51%
Lung
42%
Brain
25%
Heart
17%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
CDC42EP1CDC42RHOQCDC42EP3C15orf62CDC42EP5CDC42EP4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q00587
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.86LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.27 [0.79–1.86]
RankingsWhere CDC42EP1 stands among ~20K protein-coding genes
  • #6,451of 20,598
    Most Researched73
  • #16,948of 17,882
    Most Constrained (LOEUF)1.86
Genes detectedCDC42EP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Salmonella engages CDC42 effector protein 1 for intracellular invasion.
PMID: 37877586
J Cell Physiol · 2024
1.00
2
EBV Reactivation-associated gene signature predicts poor prognosis in nasopharyngeal carcinoma.
PMID: 40457434
J Transl Med · 2025
0.90
3
The Borg family of Cdc42 effector proteins Cdc42EP1-5.
PMID: 27913681
Biochem Soc Trans · 2016
0.80
4
Evaluating the expression pattern of ATXN1 and CDC42EP1 genes and related long noncoding RNAs in oral squamous cell carcinoma.
PMID: 39002033
Mol Biol Rep · 2024
0.70
5
hsa_circ_0005991 promotes epithelial-mesenchymal transition by regulating miR-30b-3p/Cdc42EP1 axis in ovary endometriosis.
PMID: 37757976
Genomics · 2023
0.60