EIF2AK1 (eukaryotic translation initiation factor 2 alpha kinase 1)

2016-10-01  

Identity

HGNC
EIF2AK1
LOCATION
7p22.1
LOCUSID
27102
ALIAS
HCR,HRI,LEMSPAD,hHRI
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 27102
MIM: 613635
HGNC: 24921
Ensembl: ENSG00000086232

Variants:

dbSNP: 27102
ClinVar: 27102
TCGA: ENSG00000086232
COSMIC: EIF2AK1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000086232ENST00000199389Q9BQI3
ENSG00000086232ENST00000199389A0A024QZU1
ENSG00000086232ENST00000422786H7C033
ENSG00000086232ENST00000431744F8WCM0
ENSG00000086232ENST00000446699C9J7U7

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
Hepatitis CKEGGko05160
Hepatitis CKEGGhsa05160
MeaslesKEGGko05162
MeaslesKEGGhsa05162
Influenza AKEGGko05164
Influenza AKEGGhsa05164
Herpes simplex infectionKEGGko05168
Herpes simplex infectionKEGGhsa05168
Epstein-Barr virus infectionKEGGhsa05169
Epstein-Barr virus infectionKEGGko05169

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
359261822022Targeting the EIF2AK1 Signaling Pathway Rescues Red Blood Cell Production in SF3B1-Mutant Myelodysplastic Syndromes With Ringed Sideroblasts.5
359261822022Targeting the EIF2AK1 Signaling Pathway Rescues Red Blood Cell Production in SF3B1-Mutant Myelodysplastic Syndromes With Ringed Sideroblasts.5
328925012021The eIF2α kinase HRI in innate immunity, proteostasis, and mitochondrial stress.19
331686302021The eIF2α kinase HRI triggers the autophagic clearance of cytosolic protein aggregates.17
328925012021The eIF2α kinase HRI in innate immunity, proteostasis, and mitochondrial stress.19
331686302021The eIF2α kinase HRI triggers the autophagic clearance of cytosolic protein aggregates.17
321327072020Mitochondrial stress is relayed to the cytosol by an OMA1-DELE1-HRI pathway.230
321970742020De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.26
322990902020The HRI-regulated transcription factor ATF4 activates BCL11A transcription to silence fetal hemoglobin expression.32
321327072020Mitochondrial stress is relayed to the cytosol by an OMA1-DELE1-HRI pathway.230
321970742020De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.26
322990902020The HRI-regulated transcription factor ATF4 activates BCL11A transcription to silence fetal hemoglobin expression.32
315546362019Heme-regulated eIF2α kinase in erythropoiesis and hemoglobinopathies.43
315546362019Heme-regulated eIF2α kinase in erythropoiesis and hemoglobinopathies.43
300262272018Domain-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)