Gene Gene information from NCBI Gene database.
Entrez ID 27102
Gene name Eukaryotic translation initiation factor 2 alpha kinase 1
Gene symbol EIF2AK1
Synonyms (NCBI Gene)
HCRHRILEMSPADhHRI
Chromosome 7
Chromosome location 7p22.1
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 hav
miRNA miRNA information provided by mirtarbase database.
686
miRTarBase ID miRNA Experiments Reference
MIRT024150 hsa-miR-221-3p Sequencing 20371350
MIRT025934 hsa-miR-7-5p Microarray 19073608
MIRT052113 hsa-let-7b-5p CLASH 23622248
MIRT049608 hsa-miR-92a-3p CLASH 23622248
MIRT040713 hsa-miR-92b-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
ELK1 Activation 19133234
EP300 Activation 19133234
HDAC1 Repression 19133234
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000423 Process Mitophagy IDA 38340717
GO:0002526 Process Acute inflammatory response IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613635 24921 ENSG00000086232
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BQI3
Protein name Eukaryotic translation initiation factor 2-alpha kinase 1 (EC 2.7.11.1) (Heme-controlled repressor) (HCR) (Heme-regulated eukaryotic initiation factor eIF-2-alpha kinase) (Heme-regulated inhibitor) (hHRI) (Hemin-sensitive initiation factor 2-alpha kinase)
Protein function Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) in response to various stress conditions (PubMed:32132706, PubMed:32132707, PubMed:37327776, PubMed:
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 167 245 Protein kinase domain Domain
PF00069 Pkinase 340 583 Protein kinase domain Domain
Sequence
MQGGNSGVRKREEEGDGAGAVAAPPAIDFPAEGPDPEYDESDVPAEIQVLKEPLQQPTFP
FAVANQLLLVSLLEHLSHVHEPNPLRSRQVFKLLCQTFIKMGLLSSFTCSDEFSSLRLHH
NRAITHLMRSAKERVRQDPCEDISRIQKIRSREVALEAQTSRYLNEFEELAILGKGGYGR
VYKVRNKLDGQYYAIKKILIKGATKTVCMKVLREVKVLAGLQHPNIVGYHTAWIEHVHVI
QPRAD
RAAIELPSLEVLSDQEEDREQCGVKNDESSSSSIIFAEPTPEKEKRFGESDTENQ
NNKSVKYTTNLVIRESGELESTLELQENGLAGLSASSIVEQQLPLRRNSHLEESFTSTEE
SSEENVNFLGQTEAQYHLMLHIQMQLCELSLWDWIVERNKRGREYVDESACPYVMANVAT
KIFQELVEGVFYIHNMGIVHRDLKPRNIFLHGPDQQVKIGDFGLACTDILQKNTDWTNRN
GKRTPTHTSRVGTCLYASPEQLEGSEYDAKSDMYSLGVVLLELFQPFGTEMERAEVLTGL
RTGQLPESLRKRCPVQAKYIQHLTRRNSSQRPSAIQLLQSELF
QNSGNVNLTLQMKIIEQ
EKEIAELKKQLNLLSQDKGVRDDGKDGGVG
Sequence length 630
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Hepatitis C
Measles
Herpes simplex virus 1 infection
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Anemia, Hemolytic Anemia CTD_human_DG 25411909
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic, Acquired Anemia CTD_human_DG 25411909
★☆☆☆☆
Found in Text Mining only
Anemia, Microangiopathic Anemia CTD_human_DG 25411909
★☆☆☆☆
Found in Text Mining only
Antisocial Personality Disorder Antisocial Personality Disorder BEFREE 29284378, 30967799, 31096835
★☆☆☆☆
Found in Text Mining only
Arthritis, Psoriatic Psoriatic Arthritis BEFREE 17340018
★☆☆☆☆
Found in Text Mining only
Beta thalassemia intermedia beta Thalassemia BEFREE 31554636
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 18559534 Associate
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognition disorder Pubtator 32197074 Associate
★☆☆☆☆
Found in Text Mining only
Dermatologic disorders Dermatologic Disorders BEFREE 14675183
★☆☆☆☆
Found in Text Mining only