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EIF2S1 (eukaryotic translation initiation factor 2 subunit alpha)

Identity

Alias_namesEIF2
eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD )
eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa
Alias_symbol (synonym)EIF-2alpha
EIF2A
Other aliasEIF-2
EIF-2A
HGNC (Hugo) EIF2S1
LocusID (NCBI) 1965
Atlas_Id 46443
Location 14q23.3  [Link to chromosome band 14q23]
Location_base_pair Starts at 67827034 and ends at 67853233 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
EIF2S1 (14q23.3) / EIF2S1 (14q23.3)EIF2S1 (14q23.3) / GPHN (14q23.3)EIF2S1 (14q23.3) / STX12 (1p35.3)
EIF2S1 14q23.3 / GPHN 14q23.3

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(5;11)(q33;p13) CAPRIN1/PDGFRB


External links

Nomenclature
HGNC (Hugo)EIF2S1   3265
Cards
Entrez_Gene (NCBI)EIF2S1  1965  eukaryotic translation initiation factor 2 subunit alpha
AliasesEIF-2; EIF-2A; EIF-2alpha; EIF2; 
EIF2A
GeneCards (Weizmann)EIF2S1
Ensembl hg19 (Hinxton)ENSG00000134001 [Gene_View]  chr14:67827034-67853233 [Contig_View]  EIF2S1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000134001 [Gene_View]  chr14:67827034-67853233 [Contig_View]  EIF2S1 [Vega]
ICGC DataPortalENSG00000134001
TCGA cBioPortalEIF2S1
AceView (NCBI)EIF2S1
Genatlas (Paris)EIF2S1
WikiGenes1965
SOURCE (Princeton)EIF2S1
Genetics Home Reference (NIH)EIF2S1
Genomic and cartography
GoldenPath hg19 (UCSC)EIF2S1  -     chr14:67827034-67853233 +  14q23.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EIF2S1  -     14q23.3   [Description]    (hg38-Dec_2013)
EnsemblEIF2S1 - 14q23.3 [CytoView hg19]  EIF2S1 - 14q23.3 [CytoView hg38]
Mapping of homologs : NCBIEIF2S1 [Mapview hg19]  EIF2S1 [Mapview hg38]
OMIM603907   
Gene and transcription
Genbank (Entrez)AK297244 AK312442 BC002513 BX161521 D28379
RefSeq transcript (Entrez)NM_004094
RefSeq genomic (Entrez)NC_000014 NC_018925 NT_026437 NW_004929393
Consensus coding sequences : CCDS (NCBI)EIF2S1
Cluster EST : UnigeneHs.151777 [ NCBI ]
CGAP (NCI)Hs.151777
Alternative Splicing GalleryENSG00000134001
Gene ExpressionEIF2S1 [ NCBI-GEO ]   EIF2S1 [ EBI - ARRAY_EXPRESS ]   EIF2S1 [ SEEK ]   EIF2S1 [ MEM ]
Gene Expression Viewer (FireBrowse)EIF2S1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1965
GTEX Portal (Tissue expression)EIF2S1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP05198   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP05198  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP05198
Splice isoforms : SwissVarP05198
PhosPhoSitePlusP05198
Domaine pattern : Prosite (Expaxy)S1 (PS50126)   
Domains : Interpro (EBI)NA-bd_OB-fold    S1_dom    S1_domain    TIF2_asu_C    TIF2_asu_middle    TIF_2_asu   
Domain families : Pfam (Sanger)EIF_2_alpha (PF07541)    S1 (PF00575)   
Domain families : Pfam (NCBI)pfam07541    pfam00575   
Domain families : Smart (EMBL)S1 (SM00316)  
Conserved Domain (NCBI)EIF2S1
DMDM Disease mutations1965
Blocks (Seattle)EIF2S1
PDB (SRS)1KL9    1Q8K   
PDB (PDBSum)1KL9    1Q8K   
PDB (IMB)1KL9    1Q8K   
PDB (RSDB)1KL9    1Q8K   
Structural Biology KnowledgeBase1KL9    1Q8K   
SCOP (Structural Classification of Proteins)1KL9    1Q8K   
CATH (Classification of proteins structures)1KL9    1Q8K   
SuperfamilyP05198
Human Protein AtlasENSG00000134001
Peptide AtlasP05198
HPRD04881
IPIIPI00219678   IPI00909998   IPI01024849   IPI01024746   
Protein Interaction databases
DIP (DOE-UCLA)P05198
IntAct (EBI)P05198
FunCoupENSG00000134001
BioGRIDEIF2S1
STRING (EMBL)EIF2S1
ZODIACEIF2S1
Ontologies - Pathways
QuickGOP05198
Ontology : AmiGOpositive regulation of defense response to virus by host  translation initiation factor activity  protein binding  nucleus  cytosol  ribosome  polysome  eukaryotic translation initiation factor 2 complex  eukaryotic translation initiation factor 2B complex  translational initiation  aging  cytoplasmic stress granule  membrane  negative regulation of translational initiation in response to stress  eukaryotic 48S preinitiation complex  cellular response to amino acid starvation  cellular response to heat  cellular response to UV  response to endoplasmic reticulum stress  response to endoplasmic reticulum stress  PERK-mediated unfolded protein response  PERK-mediated unfolded protein response  ribosome binding  multi-eIF complex  translation initiation ternary complex  poly(A) RNA binding  protein autophosphorylation  transmembrane transport  extracellular exosome  glial limiting end-foot  mitophagy in response to mitochondrial depolarization  xenophagy  positive regulation of neuron death  response to manganese-induced endoplasmic reticulum stress  positive regulation of type B pancreatic cell apoptotic process  
Ontology : EGO-EBIpositive regulation of defense response to virus by host  translation initiation factor activity  protein binding  nucleus  cytosol  ribosome  polysome  eukaryotic translation initiation factor 2 complex  eukaryotic translation initiation factor 2B complex  translational initiation  aging  cytoplasmic stress granule  membrane  negative regulation of translational initiation in response to stress  eukaryotic 48S preinitiation complex  cellular response to amino acid starvation  cellular response to heat  cellular response to UV  response to endoplasmic reticulum stress  response to endoplasmic reticulum stress  PERK-mediated unfolded protein response  PERK-mediated unfolded protein response  ribosome binding  multi-eIF complex  translation initiation ternary complex  poly(A) RNA binding  protein autophosphorylation  transmembrane transport  extracellular exosome  glial limiting end-foot  mitophagy in response to mitochondrial depolarization  xenophagy  positive regulation of neuron death  response to manganese-induced endoplasmic reticulum stress  positive regulation of type B pancreatic cell apoptotic process  
Pathways : BIOCARTAApoptotic Signaling in Response to DNA Damage [Genes]    Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway [Genes]    Eukaryotic protein translation [Genes]    Double Stranded RNA Induced Gene Expression [Genes]    VEGF, Hypoxia, and Angiogenesis [Genes]    Regulation of eIF2 [Genes]   
Pathways : KEGGRNA transport    Protein processing in endoplasmic reticulum    Non-alcoholic fatty liver disease (NAFLD)    Hepatitis C    Measles    Influenza A    Herpes simplex infection   
NDEx NetworkEIF2S1
Atlas of Cancer Signalling NetworkEIF2S1
Wikipedia pathwaysEIF2S1
Orthology - Evolution
OrthoDB1965
GeneTree (enSembl)ENSG00000134001
Phylogenetic Trees/Animal Genes : TreeFamEIF2S1
HOVERGENP05198
HOGENOMP05198
Homologs : HomoloGeneEIF2S1
Homology/Alignments : Family Browser (UCSC)EIF2S1
Gene fusions - Rearrangements
Fusion : MitelmanEIF2S1/GPHN [14q23.3/14q23.3]  
Fusion: TCGAEIF2S1 14q23.3 GPHN 14q23.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEIF2S1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EIF2S1
dbVarEIF2S1
ClinVarEIF2S1
1000_GenomesEIF2S1 
Exome Variant ServerEIF2S1
ExAC (Exome Aggregation Consortium)EIF2S1 (select the gene name)
Genetic variants : HAPMAP1965
Genomic Variants (DGV)EIF2S1 [DGVbeta]
DECIPHER (Syndromes)14:67827034-67853233  ENSG00000134001
CONAN: Copy Number AnalysisEIF2S1 
Mutations
ICGC Data PortalEIF2S1 
TCGA Data PortalEIF2S1 
Broad Tumor PortalEIF2S1
OASIS PortalEIF2S1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEIF2S1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEIF2S1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EIF2S1
DgiDB (Drug Gene Interaction Database)EIF2S1
DoCM (Curated mutations)EIF2S1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EIF2S1 (select a term)
intoGenEIF2S1
Cancer3DEIF2S1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603907   
Orphanet
MedgenEIF2S1
Genetic Testing Registry EIF2S1
NextProtP05198 [Medical]
TSGene1965
GENETestsEIF2S1
Huge Navigator EIF2S1 [HugePedia]
snp3D : Map Gene to Disease1965
BioCentury BCIQEIF2S1
ClinGenEIF2S1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1965
Chemical/Pharm GKB GenePA27695
Clinical trialEIF2S1
Miscellaneous
canSAR (ICR)EIF2S1 (select the gene name)
Probes
Litterature
PubMed196 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEIF2S1
EVEXEIF2S1
GoPubMedEIF2S1
iHOPEIF2S1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:04:27 CET 2017

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