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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GCN1
GCN1 activator of EIF2AK4
Chromosome 12 · 12q24.23
NCBI Gene: 10985Ensembl: ENSG00000089154.12HGNC: HGNC:4199UniProt: Q92616
237PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
rescue of stalled cytosolic ribosomemembraneprotein-RNA covalent cross-linking repaircytosoltype 1 diabetes mellitusatrial fibrillationarthrogryposis multiplex congenitafetal akinesia deformation sequence
✦AI Summary

GCN1 is a conserved ribosome collision sensor that plays dual roles in translation quality control and stress response. As a primary function, GCN1 directly binds stalled ribosomes and acts as a sentinel for ribosome collisions, recruiting the E3 ligase RNF14 to promote ubiquitination and degradation of translation factors including eEF1A and eRF1 on stalled ribosomes 1. This RNF14-RNF25-dependent pathway also mediates ubiquitination of ribosomal proteins, maintaining proteostasis during translational stress 12. Mechanistically, GCN1 serves as a positive activator of the integrated stress response (ISR) by recruiting GCN2 to collided ribosomes in an amino acid starvation-dependent manner 3. GCN1-mediated GCN2 activation stimulates phosphorylation of eIF2α, attenuating global translation while promoting preferential translation of ISR-responsive mRNAs like ATF4 to reprogram amino acid biosynthesis 4. Diseases relevant to GCN1 dysfunction include acute myeloid leukemia, where GCN1/GCN2/ATF4 pathway activation mediates apoptosis following therapeutic protein degradation 5. Recent findings reveal GCN1 also regulates cell proliferation, apoptosis, and immune responses independently of GCN2, indicating broader physiological roles 67. Clinically, GCN1 represents a promising therapeutic target for cancer treatment and may be relevant in aging and neurodegenerative diseases through its regulation of ribosome-mediated proteostasis 6.

Sources cited
1
GCN1 acts as ribosome collision sensor recruiting RNF14 to ubiquitinate eEF1A and ribosomal proteins on stalled ribosomes
PMID: 36638793
2
RNF14-dependent ubiquitylation mechanism resolves translation-coupled RNA-protein crosslinks via ribosome collisions
PMID: 37951216
3
GCN1 recruits GCN2 to collided ribosomes in collision-dependent manner to initiate amino acid response signaling
PMID: 41037622
4
eIF2α phosphorylation by GCN2 attenuates global translation while promoting preferential ISR mRNA translation
PMID: 38462161
5
GCN1/GCN2/ATF4 pathway activation mediates apoptosis in AML in response to therapeutic protein degradation
PMID: 33197925
6
GCN1 has non-canonical GCN2-independent functions in cell proliferation, apoptosis, immune response, and energy regulation
PMID: 38474243
7
GCN1 regulates cell cycle and inflammation independently of GCN2 and represents a promising drug target in cancer and non-cancer diseases
PMID: 38705128
8
GCN1 functions as ribosome collision sensor during treatment with anti-leukemic drug homoharringtonine
PMID: 40442371
Disease Associationsⓘ20
type 1 diabetes mellitusOpen Targets
0.18Weak
atrial fibrillationOpen Targets
0.17Weak
arthrogryposis multiplex congenitaOpen Targets
0.12Weak
fetal akinesia deformation sequenceOpen Targets
0.12Weak
fetal akinesia deformation sequence 1Open Targets
0.12Weak
COVID-19Open Targets
0.08Suggestive
severe acute respiratory syndromeOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
cancerOpen Targets
0.06Suggestive
MODYOpen Targets
0.06Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.05Suggestive
maturity-onset diabetes of the young type 10Open Targets
0.04Suggestive
hyperproinsulinemiaOpen Targets
0.04Suggestive
ovarian dysfunctionOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
Glycogen storage disease due to hepatic glycogen synthase deficiencyOpen Targets
0.04Suggestive
glycogen storage disorder due to hepatic glycogen synthase deficiencyOpen Targets
0.04Suggestive
Crigler-Najjar syndrome type 2Open Targets
0.03Suggestive
diabetes mellitus, permanent neonatal 4Open Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RPS9Protein interaction100%RPS23Protein interaction100%RPL38Protein interaction100%RPL27Protein interaction100%FAUProtein interaction100%RPL32Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Lung
98%
Bone Marrow
80%
Liver
79%
Heart
67%
Brain
50%
Gene Interaction Network
Click a node to explore
GCN1RPS9RPS23RPL38RPL27FAURPL32
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q92616
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.35Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.28 [0.23–0.35]
RankingsWhere GCN1 stands among ~20K protein-coding genes
  • #1,663of 20,598
    Most Researched237 · top 10%
  • #1,532of 17,882
    Most Constrained (LOEUF)0.35 · top 10%
Genes detectedGCN1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
The integrated stress response in metabolic adaptation.
PMID: 38462161
J Biol Chem · 2024
1.00
2
An E3 ligase network engages GCN1 to promote the degradation of translation factors on stalled ribosomes.
PMID: 36638793
Cell · 2023
0.90
3
RNF14-dependent atypical ubiquitylation promotes translation-coupled resolution of RNA-protein crosslinks.
PMID: 37951216
Mol Cell · 2023
0.80
4
CC-90009, a novel cereblon E3 ligase modulator, targets acute myeloid leukemia blasts and leukemia stem cells.
PMID: 33197925
Blood · 2021
0.70
5
Emerging Role of GCN1 in Disease and Homeostasis.
PMID: 38474243
Int J Mol Sci · 2024
0.60