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EIF2AK1 - eukaryotic translation initiation factor 2 alpha kinase 1 Gene

Also Known as HCR; HRI; hHRI; LEMSPAD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 27102

About EIF2AK1

Cytogenetic location: 7p22.1 Genomic coordinates (GRCh38): 7:6,022,247-6,059,175 (from NCBI)

This gene has 10 transcripts (splice variants), 209 orthologues, 8 paralogues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 37.9), placenta (RPKM 32.2) and 25 other tissues.

Summary

The protein encoded by this gene acts at the level of translation initiation to downregulate protein synthesis in response to stress. The encoded protein is a kinase that can be inactivated by hemin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

EIF2AK1 Products (2)

mRNA	Protein	Name
NM_001134335.2	NP_001127807.1	eukaryotic translation initiation factor 2-alpha kinase 1 isoform b
NM_014413.4	NP_055228.2	eukaryotic translation initiation factor 2-alpha kinase 1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables eukaryotic translation initiation factor 2alpha kinase activity	IDA IDA: Inferred from direct assay	11036079	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22939624	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in HRI-mediated signaling	IDA IDA: Inferred from direct assay	32132706	GOA
involved in integrated stress response signaling	IDA IDA: Inferred from direct assay	32132707	GOA
involved in positive regulation of mitophagy	IDA IDA: Inferred from direct assay	38340717	GOA
involved in protein localization to mitochondrion	IDA IDA: Inferred from direct assay	38340717	GOA
involved in response to iron ion starvation	IDA IDA: Inferred from direct assay	11036079	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in cytosol	IDA IDA: Inferred from direct assay	32132706	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EIF2AK1 Protein Structure

Pkinase

0
100
200
300
400
500
600
630 a.a.

Protein Preferred Names	Protein Names
eukaryotic translation initiation factor 2-alpha kinase 1	heme regulated initiation factor 2 alpha kinase

EIF2AK1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	EIF2AK1	Q9BQI3	HSP90AB1	Homo sapiens	P08238	Pull Down	32707033

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	LEMSPAD Lemspad Syndrome
Leukodystrophy, Hypomyelinating, 17	HLD17
Beta-Thalassemia	Beta Thalassemia Cooley'S Anemia Mediterranean Anemia Beta Thalassemia Intermedia Erythroblastic Anemia Thalassemia, Hispanic Gamma-Delta-Beta Thalassemia Major Thalassemia Minor Beta-Plus-Thalassemia Thalassemia, Beta Beta Thalassemia Major Beta Thalassemia Minor Thalassemias, Beta- Microcytemia, Beta Type Thalassemia, Beta Type B-THAL Mediterranean Anaemia Beta Thalassaemia Syndrome Mediterranean Disease Beta Thalassaemia Disease
Dental Anomalies And Short Stature	Brachyolmia-Amelogenesis Imperfecta Syndrome Platyspondyly With Amelogenesis Imperfecta DASS Verloes Bourguignon Syndrome Verloes-Bourguignon Syndrome Vbs Sthag6 Tooth Agenesis, Selective, 6 Tooth Agenesis, Selective, 6, Formerly Sthag6, Formerly Selective Tooth Agenesis 5 Amelogenesis Imperfecta And Platyspondyly Skeletal Dysplasia With Amelogenesis Imperfecta And Platyspondyly Platyspondyly-Amelogenesis Imperfecta Syndrome
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Wolcott-Rallison Syndrome Med-Iddm Syndrome Iddm-Med Syndrome Wolcott Rallison Syndrome WRS Epiphyseal Dysplasia Multiple With Early-Onset Diabetes Mellitus Early-Onset Diabetes Mellitus With Multiple Epiphyseal Dysplasia Multiple Epiphyseal Dysplasia With Early-Onset Diabetes Mellitus
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity
Leukoencephalopathy With Vanishing White Matter	Cree Leukoencephalopathy Vanishing White Matter Disease Ovarioleukodystrophy Vanishing White Matter Leukodystrophy Childhood Ataxia With Central Nervous System Hypomyelinization Cach Cach Syndrome Myelinosis Centralis Diffusa VWM Cle Childhood Ataxia With Central Nervous System Hypomyelination Childhood Ataxia With Diffuse Central Nervous System Hypomyelination Cach/Vwm Cach/Vwm Syndrome Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter Cree Leukoencehalopathy Late Infantile Cach Syndrome Juvenile Or Adult Cach Syndrome Congenital Or Early Infantile Cach Syndrome Leukodystrophy With Vanishing White Matter

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-147831	HR-19011		99.64%	Unkown
HY-RS04242	EIF2AK1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04243	EIF2AK2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22002	Eif2ak1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28519	Eif2ak1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	EIF2AK1	VGNC	VGNC:28380
Rattus norvegicus	EIF2AK1	RGD	RGD:70883
Canis familiaris	EIF2AK1	VGNC	VGNC:40256
Felis catus	EIF2AK1	VGNC	VGNC:61770
Macaca mulatta	EIF2AK1	VGNC	VGNC:72105
Mus musculus	EIF2AK1	MGD	MGI:1353448
Others	EIF2AK1	NCBI