EIF2AK1 - eukaryotic translation initiation factor 2 alpha kinase 1 Gene

Homo sapiens

Also known as HCR; HRI; hHRI; LEMSPAD

Gene ID: 27102 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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
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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04242	EIF2AK1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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