Identity
HGNC
LOCATION
7p22.1
LOCUSID
ALIAS
HCR,HRI,LEMSPAD,hHRI
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 27102
MIM: 613635
HGNC: 24921
Ensembl: ENSG00000086232
Variants:
dbSNP: 27102
ClinVar: 27102
TCGA: ENSG00000086232
COSMIC: EIF2AK1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35926182 | 2022 | Targeting the EIF2AK1 Signaling Pathway Rescues Red Blood Cell Production in SF3B1-Mutant Myelodysplastic Syndromes With Ringed Sideroblasts. | 5 |
| 35926182 | 2022 | Targeting the EIF2AK1 Signaling Pathway Rescues Red Blood Cell Production in SF3B1-Mutant Myelodysplastic Syndromes With Ringed Sideroblasts. | 5 |
| 32892501 | 2021 | The eIF2α kinase HRI in innate immunity, proteostasis, and mitochondrial stress. | 19 |
| 33168630 | 2021 | The eIF2α kinase HRI triggers the autophagic clearance of cytosolic protein aggregates. | 17 |
| 32892501 | 2021 | The eIF2α kinase HRI in innate immunity, proteostasis, and mitochondrial stress. | 19 |
| 33168630 | 2021 | The eIF2α kinase HRI triggers the autophagic clearance of cytosolic protein aggregates. | 17 |
| 32132707 | 2020 | Mitochondrial stress is relayed to the cytosol by an OMA1-DELE1-HRI pathway. | 230 |
| 32197074 | 2020 | De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. | 26 |
| 32299090 | 2020 | The HRI-regulated transcription factor ATF4 activates BCL11A transcription to silence fetal hemoglobin expression. | 32 |
| 32132707 | 2020 | Mitochondrial stress is relayed to the cytosol by an OMA1-DELE1-HRI pathway. | 230 |
| 32197074 | 2020 | De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. | 26 |
| 32299090 | 2020 | The HRI-regulated transcription factor ATF4 activates BCL11A transcription to silence fetal hemoglobin expression. | 32 |
| 31554636 | 2019 | Heme-regulated eIF2α kinase in erythropoiesis and hemoglobinopathies. | 43 |
| 31554636 | 2019 | Heme-regulated eIF2α kinase in erythropoiesis and hemoglobinopathies. | 43 |
| 30026227 | 2018 | Domain-focused CRISPR screen identifies HRI as a fetal hemoglobin regulator in human erythroid cells. | 77 |
Citation
Dessen P
EIF2AK1 (eukaryotic translation initiation factor 2 alpha kinase 1)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56582/eif2ak1-(eukaryotic-translation-initiation-factor-2-alpha-kinase-1)
