Entity Details

Primary name EIF2AK1
Entity type gene
Source Source Link

Details

PrimaryID27102
RefseqGene
SymbolEIF2AK1
Nameeukaryotic translation initiation factor 2 alpha kinase 1
Chromosome7
Location7p22.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-01-09
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsE2AK1_HUMAN

GO terms

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GOName
GO:0002526 acute inflammatory response
GO:0004672 protein kinase activity
GO:0004694 eukaryotic translation initiation factor 2alpha kinase activity
GO:0005524 ATP binding
GO:0005737 cytoplasm
GO:0006909 phagocytosis
GO:0008285 negative regulation of cell population proliferation
GO:0010999 regulation of eIF2 alpha phosphorylation by heme
GO:0020037 heme binding
GO:0030225 macrophage differentiation
GO:0042803 protein homodimerization activity
GO:0045993 negative regulation of translational initiation by iron
GO:0046501 protoporphyrinogen IX metabolic process
GO:0046777 protein autophosphorylation
GO:0046986 negative regulation of hemoglobin biosynthetic process
GO:0055072 iron ion homeostasis
GO:0106310 protein serine kinase activity
GO:0106311 protein threonine kinase activity
GO:0140467 integrated stress response signaling
GO:0140468 HRI-mediated signaling
GO:1990641 response to iron ion starvation

Diseases

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Disease IDSourceNameDescription
618878 OMIMLeukoencephalopathy, motor delay, spasticity, and dysarthria syndrome (LEMSPAD)A disorder characterized by delayed motor development, speech delay with dysarthria, hypertonia, progressive spasticity, hyperreflexia, and bradykinesia. Cognition is normal. Patients manifest anxiety and attention deficit-hyperactivity disorder. The disease may be caused by variants affecting the gene represented in this entry.