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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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EIF2AK1
eukaryotic translation initiation factor 2 alpha kinase 1
Chromosome 7 · 7p22.1
NCBI Gene: 27102Ensembl: ENSG00000086232.14HGNC: HGNC:24921UniProt: Q9BQI3
62PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Kinase
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
integrated stress response signalingpositive regulation of mitophagyresponse to iron ion starvationcytosolleukoencephalopathy, motor delay, spasticity, and dysarthria syndromeleukodystrophy, hypomyelinating, 17genetic disorderneurodegenerative disease
✦AI Summary

EIF2AK1 (HRI) is a metabolic stress-sensing protein kinase that phosphorylates eIF2S1 (eIF2-alpha) to activate the integrated stress response (ISR) 12. This kinase functions as a key sensor of cellular stress conditions including heme deficiency, oxidative stress, osmotic shock, and mitochondrial dysfunction 12. Upon eIF2S1 phosphorylation, global cap-dependent protein synthesis is attenuated while ISR-specific mRNAs like ATF4 are preferentially translated, enabling stress-adaptive transcriptional reprogramming 12. EIF2AK1 senses heme concentration through hemin binding; heme depletion relieves kinase inhibition and activates the ISR, crucial for coordinated hemoglobin synthesis regulation in red blood cells 12. The protein is activated during mitochondrial stress via the OMA1-DELE1 pathway: OMA1 protease cleaves DELE1, which accumulates in the cytosol and activates EIF2AK1 to trigger ATF4-mediated responses 12. Additionally, EIF2AK1 catalyzes eIF2S1 phosphorylation following S-DELE1 activation, promoting mitochondrial eIF2S1 localization and triggering PRKN-independent mitophagy 3. De novo EIF2AK1 variants cause leukoencephalopathy with developmental delay and neurologic symptoms, suggesting disrupted kinase activity impairs cellular stress adaptation 4.

Sources cited
1
EIF2AK1/HRI is necessary and sufficient for relaying mitochondrial stress to eIF2α phosphorylation via the OMA1-DELE1 pathway
PMID: 32132706
2
EIF2AK1/HRI mediates mitochondrial stress signaling through DELE1-dependent eIF2α kinase activation and ATF4 translation
PMID: 32132707
3
EIF2AK1/HRI negatively regulates PINK1-dependent mitophagy and promotes mitochondrial localization of eIF2S1
PMID: 40344059
4
De novo EIF2AK1 variants with reduced kinase activity cause leukoencephalopathy, developmental delay, and neurologic symptoms
PMID: 32197074
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
leukoencephalopathy, motor delay, spasticity, and dysarthria syndromeOpen Targets
0.46Moderate
leukodystrophy, hypomyelinating, 17Open Targets
0.42Moderate
genetic disorderOpen Targets
0.41Moderate
neurodegenerative diseaseOpen Targets
0.37Weak
endocarditisOpen Targets
0.27Weak
COVID-19Open Targets
0.22Weak
severe acute respiratory syndromeOpen Targets
0.22Weak
X-linked dystonia-parkinsonismOpen Targets
0.22Weak
neuroinflammatory disorderOpen Targets
0.20Weak
infectionOpen Targets
0.08Suggestive
Blackfan-Diamond anemiaOpen Targets
0.07Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.07Suggestive
dominant beta-thalassemiaOpen Targets
0.06Suggestive
Beta-thalassemia - X-linked thrombocytopeniaOpen Targets
0.06Suggestive
beta-thalassemia-X-linked thrombocytopenia syndromeOpen Targets
0.06Suggestive
myelodysplastic syndrome associated with isolated del(5q)Open Targets
0.06Suggestive
X-linked sideroblastic anemia 1Open Targets
0.06Suggestive
severe congenital hypochromic anemia with ringed sideroblastsOpen Targets
0.05Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.05Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.05Suggestive
Leukoencephalopathy, motor delay, spasticity, and dysarthria syndromeUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EIF2S1Protein interaction100%NFE2L2Protein interaction91%IKBKBProtein interaction91%IFIT1BProtein interaction90%CHUKProtein interaction90%IFIT1Protein interaction90%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
92%
Liver
55%
Heart
46%
Lung
38%
Ovary
30%
Gene Interaction Network
Click a node to explore
EIF2AK1EIF2S1NFE2L2IKBKBIFIT1BCHUKIFIT1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9BQI3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.88LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.69 [0.55–0.88]
RankingsWhere EIF2AK1 stands among ~20K protein-coding genes
  • #7,450of 20,598
    Most Researched62
  • #7,881of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedEIF2AK1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mitochondrial stress is relayed to the cytosol by an OMA1-DELE1-HRI pathway.
PMID: 32132707
Nature · 2020
1.00
2
Reversible male contraception by targeted inhibition of serine/threonine kinase 33.
PMID: 38781365
Science · 2024
0.90
3
A pathway coordinated by DELE1 relays mitochondrial stress to the cytosol.
PMID: 32132706
Nature · 2020
0.80
4
A molecular atlas of the human postmenopausal fallopian tube and ovary from single-cell RNA and ATAC sequencing.
PMID: 36543131
Cell Rep · 2022
0.70
5
Kinome screening identifies integrated stress response kinase EIF2AK1/HRI as a negative regulator of PINK1 mitophagy signaling.
PMID: 40344059
Sci Adv · 2025
0.60