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26 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ERN1
endoplasmic reticulum to nucleus signaling 1
Chromosome 17 · 17q23.3
NCBI Gene: 2081Ensembl: ENSG00000178607.17HGNC: HGNC:3449UniProt: O75460
325PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneKinaseTranscription Factor
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
insulin metabolic processendoplasmic reticulum unfolded protein responsepositive regulation of RNA splicingcellular response to unfolded proteindiabetes mellitustype 2 diabetes mellitusneuroinflammatory disorderulcerative colitis
✦AI Summary

ERN1 (also called IRE1α) is a serine/threonine kinase and endoribonuclease that functions as a critical sensor of endoplasmic reticulum (ER) stress through the unfolded protein response (UPR) 12. In unstressed cells, ERN1's luminal domain remains inactive through binding to the ER chaperone BiP; accumulation of misfolded proteins triggers BiP release, allowing ERN1 homodimerization, autophosphorylation, and endoribonuclease activation 3. ERN1 specifically cleaves 26 nucleotides from XBP1 mRNA, generating a spliced transcript encoding a transcriptional activator that upregulates UPR target genes to restore ER homeostasis 4. Prolonged ER stress can shift ERN1 signaling toward apoptosis induction 1. ERN1 dysfunction is implicated in multiple diseases. In neurodegeneration, sustained ERN1 activation contributes to Alzheimer's, Parkinson's, and amyotrophic lateral sclerosis pathology through chr17 protein misfolding 5. In type 1 diabetes, genetic variants affecting insulin mRNA recognition by ERN1 influence disease susceptibility through altered mRNA decay rates 6. In prostate cancer, ERN1 inhibition reduces tumor growth and enhances anti-tumor immunity by reprogramming the tumor microenvironment 7. These findings establish ERN1 as both a fundamental stress-response regulator and a promising therapeutic target across diverse pathologies.

Sources cited
1
ERN1 is a UPR sensor; homeostatic UPR activation enables adaptive responses while prolonged stress triggers apoptosis
PMID: 29107536
2
ERN1 is one of three mechanistically distinct UPR branches regulating gene expression during ER stress
PMID: 22116877
3
BiP interaction with ERN1's luminal domain switches BiP from chaperone to ER stress sensor function
PMID: 31695187
4
ERN1 activation is involved in neurodegenerative diseases including Alzheimer's, Parkinson's, and ALS through protein misfolding
PMID: 32854418
5
ERN1 digestion motif in insulin mRNA influences type 1 diabetes risk through mRNA decay mechanisms
PMID: 40112799
6
ERN1 inhibition reduces prostate cancer tumor growth and enhances anti-tumor immunity by reprogramming the tumor microenvironment
PMID: 39406723
Disease Associationsⓘ20
diabetes mellitusOpen Targets
0.47Moderate
type 2 diabetes mellitusOpen Targets
0.46Moderate
neuroinflammatory disorderOpen Targets
0.37Weak
ulcerative colitisOpen Targets
0.26Weak
Crohn's diseaseOpen Targets
0.25Weak
psoriasisOpen Targets
0.23Weak
ankylosing spondylitisOpen Targets
0.23Weak
sclerosing cholangitisOpen Targets
0.23Weak
neoplasmOpen Targets
0.12Weak
infectionOpen Targets
0.10Weak
obesityOpen Targets
0.10Weak
posterior cortical atrophyOpen Targets
0.10Weak
melanomaOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.10Suggestive
cystic fibrosisOpen Targets
0.09Suggestive
Miyoshi myopathyOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.09Suggestive
microphthalmia with limb anomaliesOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BAK1Protein interaction100%PRORPProtein interaction100%BCL2Protein interaction100%TRAF2Protein interaction100%BCL2L11Protein interaction100%ATF4Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Lung
93%
Bone Marrow
56%
Ovary
55%
Heart
18%
Brain
12%
Gene Interaction Network
Click a node to explore
ERN1BAK1PRORPBCL2TRAF2BCL2L11ATF4
PROTEIN STRUCTURE
Preparing viewer…
PDB6W39 · 1.74 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.50Moderately Constrained
pLIⓘ
0.95Intolerant
Observed/Expected LoF0.37 [0.28–0.50]
RankingsWhere ERN1 stands among ~20K protein-coding genes
  • #1,007of 20,598
    Most Researched325 · top 5%
  • #2,969of 17,882
    Most Constrained (LOEUF)0.50 · top quartile
Genes detectedERN1
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
The Unfolded Protein Response and Cell Fate Control.
PMID: 29107536
Mol Cell · 2018
1.00
2
The unfolded protein response: from stress pathway to homeostatic regulation.
PMID: 22116877
Science · 2011
0.90
3
A Genome-wide ER-phagy Screen Highlights Key Roles of Mitochondrial Metabolism and ER-Resident UFMylation.
PMID: 32160526
Cell · 2020
0.80
4
Endoplasmic Reticulum Stress and Unfolded Protein Response in Neurodegenerative Diseases.
PMID: 32854418
Int J Mol Sci · 2020
0.70
5
Targeting the IRE1α-XBP1s axis confers selective vulnerability in hepatocellular carcinoma with activated Wnt signaling.
PMID: 38418544
Oncogene · 2024
0.64