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EIF2AK1 (eukaryotic translation initiation factor 2 alpha kinase 1)

Identity

Alias_symbol (synonym)HRI
KIAA1369
Other aliasHCR
HGNC (Hugo) EIF2AK1
LocusID (NCBI) 27102
Atlas_Id 56582
Location 7p22.1  [Link to chromosome band 7p22]
Location_base_pair Starts at 6022247 and ends at 6059229 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AIMP2 (7p22.1) / EIF2AK1 (7p22.1)EIF2AK1 (7p22.1) / DBNL (7p13)EIF2AK1 (7p22.1) / MROH7-TTC4 (1p32.3)
RNF216 (7p22.1) / EIF2AK1 (7p22.1)UNC45B (17q12) / EIF2AK1 (7p22.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)EIF2AK1   24921
Cards
Entrez_Gene (NCBI)EIF2AK1  27102  eukaryotic translation initiation factor 2 alpha kinase 1
AliasesHCR; HRI
GeneCards (Weizmann)EIF2AK1
Ensembl hg19 (Hinxton)ENSG00000086232 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000086232 [Gene_View]  chr7:6022247-6059229 [Contig_View]  EIF2AK1 [Vega]
ICGC DataPortalENSG00000086232
TCGA cBioPortalEIF2AK1
AceView (NCBI)EIF2AK1
Genatlas (Paris)EIF2AK1
WikiGenes27102
SOURCE (Princeton)EIF2AK1
Genetics Home Reference (NIH)EIF2AK1
Genomic and cartography
GoldenPath hg38 (UCSC)EIF2AK1  -     chr7:6022247-6059229 -  7p22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EIF2AK1  -     7p22.1   [Description]    (hg19-Feb_2009)
EnsemblEIF2AK1 - 7p22.1 [CytoView hg19]  EIF2AK1 - 7p22.1 [CytoView hg38]
Mapping of homologs : NCBIEIF2AK1 [Mapview hg19]  EIF2AK1 [Mapview hg38]
OMIM613635   
Gene and transcription
Genbank (Entrez)AB037790 AF085994 AF100784 AF116634 AF147094
RefSeq transcript (Entrez)NM_001134335 NM_014413
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EIF2AK1
Cluster EST : UnigeneHs.520205 [ NCBI ]
CGAP (NCI)Hs.520205
Alternative Splicing GalleryENSG00000086232
Gene ExpressionEIF2AK1 [ NCBI-GEO ]   EIF2AK1 [ EBI - ARRAY_EXPRESS ]   EIF2AK1 [ SEEK ]   EIF2AK1 [ MEM ]
Gene Expression Viewer (FireBrowse)EIF2AK1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27102
GTEX Portal (Tissue expression)EIF2AK1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BQI3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BQI3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BQI3
Splice isoforms : SwissVarQ9BQI3
Catalytic activity : Enzyme2.7.11.1 [ Enzyme-Expasy ]   2.7.11.12.7.11.1 [ IntEnz-EBI ]   2.7.11.1 [ BRENDA ]   2.7.11.1 [ KEGG ]   
PhosPhoSitePlusQ9BQI3
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)Kinase-like_dom    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser/Thr_kinase_AS   
Domain families : Pfam (Sanger)Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam00069   
Domain families : Smart (EMBL)S_TKc (SM00220)  
Conserved Domain (NCBI)EIF2AK1
DMDM Disease mutations27102
Blocks (Seattle)EIF2AK1
SuperfamilyQ9BQI3
Human Protein AtlasENSG00000086232
Peptide AtlasQ9BQI3
HPRD10684
IPIIPI00328149   IPI00328150   IPI01011479   IPI01009799   IPI00894002   IPI00893082   IPI00893791   
Protein Interaction databases
DIP (DOE-UCLA)Q9BQI3
IntAct (EBI)Q9BQI3
FunCoupENSG00000086232
BioGRIDEIF2AK1
STRING (EMBL)EIF2AK1
ZODIACEIF2AK1
Ontologies - Pathways
QuickGOQ9BQI3
Ontology : AmiGOacute inflammatory response  eukaryotic translation initiation factor 2alpha kinase activity  ATP binding  cytoplasm  phagocytosis  response to stress  negative regulation of cell proliferation  response to external stimulus  regulation of translational initiation by eIF2 alpha phosphorylation  regulation of eIF2 alpha phosphorylation by heme  heme binding  macrophage differentiation  protein homodimerization activity  negative regulation of translational initiation by iron  protoporphyrinogen IX metabolic process  protein autophosphorylation  negative regulation of hemoglobin biosynthetic process  iron ion homeostasis  
Ontology : EGO-EBIacute inflammatory response  eukaryotic translation initiation factor 2alpha kinase activity  ATP binding  cytoplasm  phagocytosis  response to stress  negative regulation of cell proliferation  response to external stimulus  regulation of translational initiation by eIF2 alpha phosphorylation  regulation of eIF2 alpha phosphorylation by heme  heme binding  macrophage differentiation  protein homodimerization activity  negative regulation of translational initiation by iron  protoporphyrinogen IX metabolic process  protein autophosphorylation  negative regulation of hemoglobin biosynthetic process  iron ion homeostasis  
Pathways : BIOCARTARegulation of eIF2 [Genes]   
Pathways : KEGGProtein processing in endoplasmic reticulum    Hepatitis C    Measles    Influenza A    Herpes simplex infection    Epstein-Barr virus infection   
NDEx NetworkEIF2AK1
Atlas of Cancer Signalling NetworkEIF2AK1
Wikipedia pathwaysEIF2AK1
Orthology - Evolution
OrthoDB27102
GeneTree (enSembl)ENSG00000086232
Phylogenetic Trees/Animal Genes : TreeFamEIF2AK1
HOVERGENQ9BQI3
HOGENOMQ9BQI3
Homologs : HomoloGeneEIF2AK1
Homology/Alignments : Family Browser (UCSC)EIF2AK1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEIF2AK1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EIF2AK1
dbVarEIF2AK1
ClinVarEIF2AK1
1000_GenomesEIF2AK1 
Exome Variant ServerEIF2AK1
ExAC (Exome Aggregation Consortium)EIF2AK1 (select the gene name)
Genetic variants : HAPMAP27102
Genomic Variants (DGV)EIF2AK1 [DGVbeta]
DECIPHEREIF2AK1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEIF2AK1 
Mutations
ICGC Data PortalEIF2AK1 
TCGA Data PortalEIF2AK1 
Broad Tumor PortalEIF2AK1
OASIS PortalEIF2AK1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEIF2AK1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEIF2AK1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EIF2AK1
DgiDB (Drug Gene Interaction Database)EIF2AK1
DoCM (Curated mutations)EIF2AK1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EIF2AK1 (select a term)
intoGenEIF2AK1
Cancer3DEIF2AK1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613635   
Orphanet
MedgenEIF2AK1
Genetic Testing Registry EIF2AK1
NextProtQ9BQI3 [Medical]
TSGene27102
GENETestsEIF2AK1
Target ValidationEIF2AK1
Huge Navigator EIF2AK1 [HugePedia]
snp3D : Map Gene to Disease27102
BioCentury BCIQEIF2AK1
ClinGenEIF2AK1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27102
Chemical/Pharm GKB GenePA134919097
Clinical trialEIF2AK1
Miscellaneous
canSAR (ICR)EIF2AK1 (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEIF2AK1
EVEXEIF2AK1
GoPubMedEIF2AK1
iHOPEIF2AK1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:06:39 CEST 2017

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