Eif2ak1 MGI Mouse Gene Detail - MGI:1353448 - eukaryotic translation initiation factor 2 alpha kinase 1

Symbol

Eif2ak1
Name

eukaryotic translation initiation factor 2 alpha kinase 1
Synonyms

Hri

Feature Type

protein coding gene
IDs

MGI:1353448
NCBI Gene: 15467
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr5:143803586-143839535 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 5, 82.67 cM
Mapping Data

3 experiments

SNPs within 2kb

1222 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1353448	protein coding gene	Chr5:143803543-143841069 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0030337	protein coding gene	Chr5:149167558-149206521 (+)
A/J	MGP_AJ_G0030306	protein coding gene	Chr5:142764719-142802698 (+)
AKR/J	MGP_AKRJ_G0030238	protein coding gene	Chr5:147215253-147252367 (+)
BALB/cJ	MGP_BALBcJ_G0030323	protein coding gene	Chr5:144001655-144039222 (+)
C3H/HeJ	MGP_C3HHeJ_G0030034	protein coding gene	Chr5:148058673-148096984 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0030768	protein coding gene	Chr5:154629565-154669036 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0027986	protein coding gene	Chr5:136519863-136556953 (+)
CAST/EiJ	MGP_CASTEiJ_G0029439	protein coding gene	Chr5:147559589-147602414 (+)
CBA/J	MGP_CBAJ_G0030004	protein coding gene	Chr5:160987448-161026654 (+)
DBA/2J	MGP_DBA2J_G0030154	protein coding gene	Chr5:142522915-142560225 (+)
FVB/NJ	MGP_FVBNJ_G0030109	protein coding gene	Chr5:141727341-141765702 (+)
LP/J	MGP_LPJ_G0030240	protein coding gene	Chr5:149770429-149808259 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0030140	protein coding gene	Chr5:163365459-163403819 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0030808	protein coding gene	Chr5:147096004-147140266 (+)
PWK/PhJ	MGP_PWKPhJ_G0029154	protein coding gene	Chr5:141622218-141660683 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0028990	protein coding gene	Chr5:144841448-144878451 (+)
WSB/EiJ	MGP_WSBEiJ_G0029512	protein coding gene	Chr5:147904322-147943103 (+)

Human Ortholog

EIF2AK1, eukaryotic translation initiation factor 2 alpha kinase 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EIF2AK1, eukaryotic translation initiation factor 2 alpha kinase 1
Synonyms

HCR, hHRI, HRI, LEMSPAD
Links

HGNC:24921

NCBI Gene ID: 27102

neXtProt AC: NX_Q9BQI3

UniProt: Q9BQI3
Chr Location

7p22.1; chr7:6022247-6059175 (-) GRCh38

MGI Vertebrate Homology

Eif2ak1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: EIF2AK1
Gene Tree

Eif2ak1

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Phenotype Summary

13 phenotypes from 2 alleles in 2 genetic backgrounds
21 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

12
Endonuclease-mediated

2
Gene trapped

9
Targeted

1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

37 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit enlarged heart size and abnormal red blood cell development, morphology, and physiology with macrocytic anemia.

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All GO Annotations

61
GO References

17

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

804
Tissues

95
cDNA Data

12
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA EIF2AK1

Xenbase eif2ak1

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All Sequences

59
RefSeq

4
UniProt

2
CCDS

CCDS84994.1

Ensembl

ENSMUSG00000029613 (Evidence)
NCBI Gene

15467

			Length	Strain/Species	Flank
genomic	15467	NCBI Gene Model \| MGI Sequence Detail	35950	C57BL/6J	± kb
transcript	NM_013557	RefSeq \| MGI Sequence Detail	2748	C57BL/6
polypeptide	Q9Z2R9	UniProt \| EBI \| MGI Sequence Detail	619	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000006958 eukaryotic translation initiation factor 2-alpha kinase 1

(term hierarchy)
EC

2.7.11.1
InterPro Domains

IPR050339 Cell Cycle and Stress Response Kinase

IPR017441 Protein kinase, ATP binding site

IPR000719 Protein kinase domain

IPR011009 Protein kinase-like domain superfamily

IPR008271 Serine/threonine-protein kinase, active site

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All nucleic 19

cDNA 17

Primer pair 2

Microarray probesets 8

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MGI:1333789

Summaries

All 65

Developmental Gene Expression 4

Gene Ontology 17

Phenotypes 21
Earliest

J:51221 Berlanga JJ, et al., Characterization of the hemin-sensitive eukaryotic initiation factor 2alpha kinase from mouse nonerythroid cells. J Biol Chem. 1998 Nov 27;273(48):32340-6
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Eif2ak1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr49676	Chr5:143803541-143803573 (+)	-29 bp
Tssr49677	Chr5:143803574-143803598 (+)	0 bp
Tssr49678	Chr5:143803604-143803620 (+)	26 bp
Tssr49679	Chr5:143827462-143827467 (+)	23,879 bp
Tssr49680	Chr5:143838905-143838932 (+)	35,333 bp
Tssr49681	Chr5:143839060-143839086 (+)	35,487 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24