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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ERC1
ELKS/RAB6-interacting/CAST family member 1
Chromosome 12 · 12p13.33
NCBI Gene: 23085Ensembl: ENSG00000082805.21HGNC: HGNC:17072UniProt: G8JLD3
144PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of canonical NF-kappaB signal transductionIkappaB kinase complexregulation of DNA-templated transcriptionprotein bindingpapillary thyroid carcinomathyroid gland oncocytic adenomaspitz nevusmelanocytic neoplasm
✦AI Summary

ERC1 (ELKS/RAB6-interacting/CAST family member 1) is a multifunctional scaffold protein with distinct roles in immune signaling and cell motility. In the immune pathway, ERC1 functions as a regulatory subunit of the IKK complex that recruits IκBα to facilitate canonical NF-κB signal transduction 1. The dengue virus NS5 protein antagonizes this function by degrading ERC1, thereby suppressing proinflammatory cytokine production 1. ERC1 also drives cell migration through assembly of plasma membrane-associated platforms at the leading edge of motile cells. It forms a functional complex with liprin-α1 and LL5 proteins that stabilizes protrusive activity and coordinates actin-adhesion dynamics required for tumor cell invasion 2. ERC1 assembles into dynamic liquid-phase condensates with flexible dimer architecture, concentrating migration-relevant partners at the cell periphery 3. The biophysical properties of these condensates are essential for motility; altering their composition or structure impairs cell migration 4. The ERC1-LL5β interaction is particularly critical for maintaining plasma membrane platforms and invadopodia formation 5. Additionally, ERC1 participates in centrosome organization and vesicle trafficking, interacting with RAB effector proteins RABEP2 for endosomal-Golgi transport and Hedgehog signaling 6. ERC1 variants are associated with lung squamous cell carcinoma susceptibility in African Americans 7.

Sources cited
1
ERC1 is a component of the IKK complex that promotes NF-κB activation; dengue virus NS5 degrades ERC1 to antagonize NF-κB activation and reduce cytokine secretion
PMID: 37252973
2
ERC1a, liprin-α1, and LL5 proteins form a functional complex required for cell migration, tumor invasion, and stabilization of protrusive activity at the cell front
PMID: 24982445
3
ERC1 forms extended flexible dimers that assemble into liquid-phase condensates modulated by intrinsically disordered regions, hosting migration-relevant partners like liprin-α1
PMID: 31537859
4
ERC1's ability to form condensates with appropriate biophysical properties is essential for cell motility; altering these properties impairs tumor cell migration
PMID: 40646182
5
ERC1 interacts with LL5β at plasma membrane-associated platforms; disrupting this interaction depletes invadopodia and inhibits tumor cell invasion
PMID: 37437062
6
ERC1 interacts with RAB effector protein RABEP2 at the centrosome and is involved in endosomal-Golgi transport and Hedgehog signaling
PMID: 27224062
7
ERC1 variants at 12p13.33 are associated with lung squamous cell carcinoma susceptibility in African Americans
PMID: 40341939
Disease Associationsⓘ20
papillary thyroid carcinomaOpen Targets
0.37Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
melanocytic neoplasmOpen Targets
0.37Weak
spitz nevusOpen Targets
0.37Weak
thyroid gland oncocytic adenomaOpen Targets
0.37Weak
Thyroid Gland Oncocytic Follicular CarcinomaOpen Targets
0.37Weak
benign prostatic hyperplasiaOpen Targets
0.33Weak
diverticular diseaseOpen Targets
0.30Weak
Hodgkins lymphomaOpen Targets
0.28Weak
Poorly Differentiated Thyroid Gland CarcinomaOpen Targets
0.28Weak
asthmaOpen Targets
0.27Weak
macrocephaly, dysmorphic facies, and psychomotor retardationOpen Targets
0.27Weak
ovarian neoplasmOpen Targets
0.26Weak
ventricular fibrillationOpen Targets
0.24Weak
VertigoOpen Targets
0.24Weak
blood coagulation diseaseOpen Targets
0.23Weak
squamous cell lung carcinomaOpen Targets
0.21Weak
lung carcinomaOpen Targets
0.20Weak
neoplasmOpen Targets
0.20Weak
pancreatic ductal adenocarcinomaOpen Targets
0.19Weak
Pathogenic Variants1
NM_178040.4(ERC1):c.3037dup (p.Leu1013fs)Likely pathogenic
Macrocephaly, dysmorphic facies, and psychomotor retardation
★☆☆☆2019→ Residue 1013
View on ClinVar ↗
Related Genes
PHLDB2Protein interaction99%PPFIBP1Protein interaction99%UNC13BProtein interaction99%RIMS1Protein interaction99%PYDC1Protein interaction98%RAB6AProtein interaction97%
Tissue Expression6 tissues
Heart
100%
Brain
54%
Bone Marrow
48%
Ovary
44%
Lung
41%
Liver
34%
Gene Interaction Network
Click a node to explore
ERC1PHLDB2PPFIBP1UNC13BRIMS1PYDC1RAB6A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IUD2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.50Moderately Constrained
pLIⓘ
0.79Intermediate
Observed/Expected LoF0.39 [0.31–0.50]
RankingsWhere ERC1 stands among ~20K protein-coding genes
  • #3,160of 20,598
    Most Researched144 · top quartile
  • #4,780of 5,498
    Most Pathogenic Variants1
  • #3,034of 17,882
    Most Constrained (LOEUF)0.50 · top quartile
Genes detectedERC1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Dengue virus NS5 degrades ERC1 during infection to antagonize NF-kB activation.
PMID: 37252973
Proc Natl Acad Sci U S A · 2023
1.00
2
Altering the biophysical properties of ERC1/ELKS-driven condensates interferes with cell motility.
PMID: 40646182
Commun Biol · 2025
0.90
3
Interfering with the ERC1-LL5β interaction disrupts plasma membrane-Associated platforms and affects tumor cell motility.
PMID: 37437062
PLoS One · 2023
0.80
4
Clinical, Morphologic, and Genomic Findings in Spitz Tumors With RET Fusion: A Series of 31 Cases.
PMID: 39986469
Mod Pathol · 2025
0.70
5
Liprin-α1, ERC1 and LL5 define polarized and dynamic structures that are implicated in cell migration.
PMID: 24982445
J Cell Sci · 2014
0.60