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EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1)

Identity

Alias_namesP18
Alias_symbol (synonym)AIMP3
Other alias
HGNC (Hugo) EEF1E1
LocusID (NCBI) 9521
Atlas_Id 40409
Location 6p24.3  [Link to chromosome band 6p24]
Location_base_pair Starts at 8079395 and ends at 8102595 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
EEF1E1 (6p24.3) / DSC2 (18q12.1)EEF1E1 (6p24.3) / EEF1E1 (6p24.3)EEF1E1 (6p24.3) / EYS (6q12)
RREB1 (6p24.3) / EEF1E1 (6p24.3)EEF1E1 6p24.3 / EYS 6q12RREB1 6p24.3 / EEF1E1 6p24.3

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  RREB1/EEF1E1 (6p24)
t(6;6)(p24;q12) EEF1E1/EYS


External links

Nomenclature
HGNC (Hugo)EEF1E1   3212
Cards
Entrez_Gene (NCBI)EEF1E1  9521  eukaryotic translation elongation factor 1 epsilon 1
AliasesAIMP3; P18
GeneCards (Weizmann)EEF1E1
Ensembl hg19 (Hinxton)ENSG00000124802 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000124802 [Gene_View]  ENSG00000124802 [Sequence]  chr6:8079395-8102595 [Contig_View]  EEF1E1 [Vega]
ICGC DataPortalENSG00000124802
TCGA cBioPortalEEF1E1
AceView (NCBI)EEF1E1
Genatlas (Paris)EEF1E1
WikiGenes9521
SOURCE (Princeton)EEF1E1
Genetics Home Reference (NIH)EEF1E1
Genomic and cartography
GoldenPath hg38 (UCSC)EEF1E1  -     chr6:8079395-8102595 -  6p24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EEF1E1  -     6p24.3   [Description]    (hg19-Feb_2009)
EnsemblEEF1E1 - 6p24.3 [CytoView hg19]  EEF1E1 - 6p24.3 [CytoView hg38]
Mapping of homologs : NCBIEEF1E1 [Mapview hg19]  EEF1E1 [Mapview hg38]
OMIM609206   
Gene and transcription
Genbank (Entrez)AB011079 AF054186 AI374688 AI394376 AV714140
RefSeq transcript (Entrez)NM_001135650 NM_004280
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EEF1E1
Cluster EST : UnigeneHs.745033 [ NCBI ]
CGAP (NCI)Hs.745033
Alternative Splicing GalleryENSG00000124802
Gene ExpressionEEF1E1 [ NCBI-GEO ]   EEF1E1 [ EBI - ARRAY_EXPRESS ]   EEF1E1 [ SEEK ]   EEF1E1 [ MEM ]
Gene Expression Viewer (FireBrowse)EEF1E1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9521
GTEX Portal (Tissue expression)EEF1E1
Human Protein AtlasENSG00000124802-EEF1E1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43324   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43324  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43324
Splice isoforms : SwissVarO43324
PhosPhoSitePlusO43324
Domaine pattern : Prosite (Expaxy)GST_CTER (PS50405)   
Domains : Interpro (EBI)Glutathione-S-Trfase_C-like    Glutathione-S-Trfase_C_sf    GST_C   
Domain families : Pfam (Sanger)GST_C (PF00043)   
Domain families : Pfam (NCBI)pfam00043   
Conserved Domain (NCBI)EEF1E1
DMDM Disease mutations9521
Blocks (Seattle)EEF1E1
PDB (SRS)2UZ8    4BL7    4BVX    4BVY    5BMU   
PDB (PDBSum)2UZ8    4BL7    4BVX    4BVY    5BMU   
PDB (IMB)2UZ8    4BL7    4BVX    4BVY    5BMU   
PDB (RSDB)2UZ8    4BL7    4BVX    4BVY    5BMU   
Structural Biology KnowledgeBase2UZ8    4BL7    4BVX    4BVY    5BMU   
SCOP (Structural Classification of Proteins)2UZ8    4BL7    4BVX    4BVY    5BMU   
CATH (Classification of proteins structures)2UZ8    4BL7    4BVX    4BVY    5BMU   
SuperfamilyO43324
Human Protein Atlas [tissue]ENSG00000124802-EEF1E1 [tissue]
Peptide AtlasO43324
HPRD10931
IPIIPI00003588   IPI00964364   IPI00913838   IPI00963998   IPI00965944   IPI00646720   IPI00964664   
Protein Interaction databases
DIP (DOE-UCLA)O43324
IntAct (EBI)O43324
FunCoupENSG00000124802
BioGRIDEEF1E1
STRING (EMBL)EEF1E1
ZODIACEEF1E1
Ontologies - Pathways
QuickGOO43324
Ontology : AmiGOprotein binding  nucleus  nucleus  nucleoplasm  nucleolus  cytoplasm  cytosol  cytosol  tRNA aminoacylation for protein translation  negative regulation of cell proliferation  aminoacyl-tRNA synthetase multienzyme complex  positive regulation of apoptotic process  positive regulation of DNA damage response, signal transduction by p53 class mediator  positive regulation of cellular senescence  
Ontology : EGO-EBIprotein binding  nucleus  nucleus  nucleoplasm  nucleolus  cytoplasm  cytosol  cytosol  tRNA aminoacylation for protein translation  negative regulation of cell proliferation  aminoacyl-tRNA synthetase multienzyme complex  positive regulation of apoptotic process  positive regulation of DNA damage response, signal transduction by p53 class mediator  positive regulation of cellular senescence  
NDEx NetworkEEF1E1
Atlas of Cancer Signalling NetworkEEF1E1
Wikipedia pathwaysEEF1E1
Orthology - Evolution
OrthoDB9521
GeneTree (enSembl)ENSG00000124802
Phylogenetic Trees/Animal Genes : TreeFamEEF1E1
HOVERGENO43324
HOGENOMO43324
Homologs : HomoloGeneEEF1E1
Homology/Alignments : Family Browser (UCSC)EEF1E1
Gene fusions - Rearrangements
Fusion : MitelmanEEF1E1/EYS [6p24.3/6q12]  
Fusion : MitelmanRREB1/EEF1E1 [6p24.3/6p24.3]  [t(6;6)(p24;p24)]  
Fusion PortalEEF1E1 6p24.3 EYS 6q12 BRCA
Fusion PortalRREB1 6p24.3 EEF1E1 6p24.3 GBM
Fusion : QuiverEEF1E1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEEF1E1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EEF1E1
dbVarEEF1E1
ClinVarEEF1E1
1000_GenomesEEF1E1 
Exome Variant ServerEEF1E1
ExAC (Exome Aggregation Consortium)ENSG00000124802
GNOMAD BrowserENSG00000124802
Varsome BrowserEEF1E1
Genetic variants : HAPMAP9521
Genomic Variants (DGV)EEF1E1 [DGVbeta]
DECIPHEREEF1E1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEEF1E1 
Mutations
ICGC Data PortalEEF1E1 
TCGA Data PortalEEF1E1 
Broad Tumor PortalEEF1E1
OASIS PortalEEF1E1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEEF1E1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEEF1E1
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 EEF1E1
DgiDB (Drug Gene Interaction Database)EEF1E1
DoCM (Curated mutations)EEF1E1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EEF1E1 (select a term)
intoGenEEF1E1
Cancer3DEEF1E1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609206   
Orphanet
DisGeNETEEF1E1
MedgenEEF1E1
Genetic Testing Registry EEF1E1
NextProtO43324 [Medical]
TSGene9521
GENETestsEEF1E1
Target ValidationEEF1E1
Huge Navigator EEF1E1 [HugePedia]
snp3D : Map Gene to Disease9521
BioCentury BCIQEEF1E1
ClinGenEEF1E1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9521
Chemical/Pharm GKB GenePA27648
Clinical trialEEF1E1
Miscellaneous
canSAR (ICR)EEF1E1 (select the gene name)
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEEF1E1
EVEXEEF1E1
GoPubMedEEF1E1
iHOPEEF1E1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Aug 27 11:20:36 CEST 2018

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