Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27102
Gene name Gene Name - the full gene name approved by the HGNC.
Eukaryotic translation initiation factor 2 alpha kinase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EIF2AK1
Synonyms (NCBI Gene) Gene synonyms aliases
HCR, HRI, LEMSPAD, hHRI
Disease Acronyms (UniProt) Disease acronyms from UniProt database
LEMSPAD
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 factor Regulation Reference
ELK1 Activation 19133234
EP300 Activation 19133234
HDAC1 Repression 19133234
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002526 Process Acute inflammatory response IEA
GO:0004672 Function Protein kinase activity IBA 21873635
GO:0004694 Function Eukaryotic translation initiation factor 2alpha kinase activity IDA 11036079, 32132706, 32132707
GO:0005515 Function Protein binding IPI 29568061, 31273097, 32132706, 32132707
GO:0005524 Function ATP binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613635 24921 ENSG00000086232
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia, Hemolytic, Anemia, Hemolytic, Acquired, Anemia, Microangiopathic rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
25411909
Lung adenocarcinoma Adenocarcinoma of lung (disorder) rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370
View all (5 more)
Unknown
Disease term Disease name Evidence References Source
Myocardial infarction Myocardial Infarction 21211798 ClinVar
Leukoencephalopathy leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome GenCC
Oligodendroglioma Oligodendroglioma GWAS
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 18559534
Cognition Disorders Associate 32197074
Developmental Disabilities Associate 32197074
Dyskinesias Associate 32197074
Glioma Associate 23577178
Heart Failure Associate 32197074
Hemoglobinopathies Associate 30026227
Language Disorders Associate 32197074
Leukodystrophy Metachromatic Associate 32197074
Leukoencephalopathies Associate 32197074