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EEF1A2 (eukaryotic translation elongation factor 1 alpha 2)

Written2008-04Sanna Noubir, Jonathan M Lee
Department of Biochemistry, Microbiology, Immunology, University of Ottawa, 451 Smyth Road, Ottawa, Ontario, Canada K1H 8M5.

(Note : for Links provided by Atlas : click)

Identity

Alias_namesSTNL
STN
statin-like
statin
Alias_symbol (synonym)EEF1AL
HS1
HGNC (Hugo) EEF1A2
LocusID (NCBI) 1917
Atlas_Id 40408
Location 20q13.33  [Link to chromosome band 20q13]
Location_base_pair Starts at 62119365 and ends at 62130668 bp from pter ( according to hg19-Feb_2009)  [Mapping EEF1A2.png]
Fusion genes
(updated 2016)
EEF1A2 (20q13.33) / DKKL1 (19q13.33)EEF1A2 (20q13.33) / EEF1A2 (20q13.33)

DNA/RNA

Description 8 exons and 7 introns.
Transcription 5 alternatives for transcript splicing.

Protein

 
Description 50kDa; 463 amino acids contains tRNA binding sites, GTP binding and hydrolysis sites and putative actin binding sites (see figure above).
Expression In mice and humans, eEF1A2 is expressed only in normal tissues of the brain, heart and skeletal muscle. Expression is found in tumours of the breast, lung and ovary.
Localisation Diffusely cytoplasmic and nuclear.
Function This protein is an isoform of the alpha subunit of the elongation factor-1 complex. There are two known isoforms of protein elongation factor eEF1A (eEF1A1 and eEF1A2). eEF1A proteins are GTP-binding proteins that interact with amino-acylated tRNA and recruit them to the ribosome during the elongation phase of protein translation. In addition, eEF1A2 binds to and stimulates the lipid kinase activity of phosphatidylinositol 4-kinase beta, the enzyme that catalyzes the generation of phosphatidylinositol 4-phosphate from phosphatidylinositol. eEF1A2 also activates the Akt serine/threonine kinase and can stimulate actin remodeling and increase the rate of cell invasion and migration in vitro.
Homology EEF1A2 is highly homologous to the EEF1A1. EEF1A2 and EEF1A1 share greater than 90% DNA sequence and amino acid identity. The GTP binding and hydrolysis domains also have homology to the Ras GTPase.

Mutations

Note Inactivation of mouse EEF1A2 leads to immunodeficiency, neuromuscular abnormalities and death by 30 days of age.

Implicated in

Note
Entity Tumorigenesis
Disease Breast, lung and ovarian cancer. EEF1A2 overexpression is found in approximatively 60% of breast, 30% of ovary and 40% of lung tumours.
Prognosis High eEF1A2 protein expression is associated with good prognosis in both breast and ovarian cancer. High eEF1A2 protein expression predicts poor prognosis in lung cancer.
Cytogenetics Fluorescence in situ hybridization (FISH), showed high copy numbers of EEF1A2 in 25% ovarian tumors.
Oncogenesis The eEF1A2 gene is transforming and increases the in-vitro growth rate of mouse and human cells grown in-vitro and also enhances their tumorigenicity in mouse xenograft models.
  

Bibliography

eEF1A2 activates Akt and stimulates Akt-dependent actin remodeling, invasion and migration.
Amiri A, Noei F, Jeganathan S, Kulkarni G, Pinke DE, Lee JM.
Oncogene. 2007 May 10;26(21):3027-40. Epub 2006 Nov 20.
PMID 17130842
 
Protein elongation factor EEF1A2 is a putative oncogene in ovarian cancer.
Anand N, Murthy S, Amann G, Wernick M, Porter LA, Cukier IH, Collins C, Gray JW, Diebold J, Demetrick DJ, Lee JM.
Nat Genet. 2002 Jul;31(3):301-5. Epub 2002 Jun 10.
PMID 12053177
 
Binding of elongation factor eEF1A2 to phosphatidylinositol 4-kinase beta stimulates lipid kinase activity and phosphatidylinositol 4-phosphate generation.
Jeganathan S, Lee JM.
J Biol Chem. 2007 Jan 5;282(1):372-80. Epub 2006 Nov 6.
PMID 17088255
 
Expression of protein elongation factor eEF1A2 predicts favorable outcome in breast cancer.
Kulkarni G, Turbin DA, Amiri A, Jeganathan S, Andrade-Navarro MA, Wu TD, Huntsman DG, Lee JM.
Breast Cancer Res Treat. 2007 Mar;102(1):31-41. Epub 2006 Aug 9.
PMID 16897428
 
The prognostic significance of elongation factor eEF1A2 in ovarian cancer.
Pinke DE, Kalloger SE, Francetic T, Huntsman DG, Lee JM.
Gynecol Oncol. 2008 Mar;108(3):561-8. Epub 2007 Dec 31.
PMID 18164751
 
Expression of eEF1A2 is associated with clear cell histology in ovarian carcinomas: overexpression of the gene is not dependent on modifications at the EEF1A2 locus.
Tomlinson VA, Newbery HJ, Bergmann JH, Boyd J, Scott D, Wray NR, Sellar GC, Gabra H, Graham A, Williams AR, Abbott CM.
Br J Cancer. 2007 May 21;96(10):1613-20. Epub 2007 Apr 17.
PMID 17437010
 

Citation

This paper should be referenced as such :
Noubir, S ; Lee, JM
EEF1A2 (eukaryotic translation elongation factor 1 alpha 2)
Atlas Genet Cytogenet Oncol Haematol. 2009;13(3):196-197.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/EEF1A2ID40408ch20q13.html


External links

Nomenclature
HGNC (Hugo)EEF1A2   3192
Cards
AtlasEEF1A2ID40408ch20q13
Entrez_Gene (NCBI)EEF1A2  1917  eukaryotic translation elongation factor 1 alpha 2
AliasesEEF1AL; EF-1-alpha-2; EF1A; EIEE33; 
HS1; MRD38; STN; STNL
GeneCards (Weizmann)EEF1A2
Ensembl hg19 (Hinxton)ENSG00000101210 [Gene_View]  chr20:62119365-62130668 [Contig_View]  EEF1A2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000101210 [Gene_View]  chr20:62119365-62130668 [Contig_View]  EEF1A2 [Vega]
ICGC DataPortalENSG00000101210
TCGA cBioPortalEEF1A2
AceView (NCBI)EEF1A2
Genatlas (Paris)EEF1A2
WikiGenes1917
SOURCE (Princeton)EEF1A2
Genetics Home Reference (NIH)EEF1A2
Genomic and cartography
GoldenPath hg19 (UCSC)EEF1A2  -     chr20:62119365-62130668 -  20q13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EEF1A2  -     20q13.3   [Description]    (hg38-Dec_2013)
EnsemblEEF1A2 - 20q13.3 [CytoView hg19]  EEF1A2 - 20q13.3 [CytoView hg38]
Mapping of homologs : NCBIEEF1A2 [Mapview hg19]  EEF1A2 [Mapview hg38]
OMIM602959   616393   616409   
Gene and transcription
Genbank (Entrez)AB209064 AB451389 AK123690 AK307536 BC000432
RefSeq transcript (Entrez)NM_001958
RefSeq genomic (Entrez)NC_000020 NC_018931 NG_034083 NT_011362 NW_004929419
Consensus coding sequences : CCDS (NCBI)EEF1A2
Cluster EST : UnigeneHs.433839 [ NCBI ]
CGAP (NCI)Hs.433839
Alternative Splicing GalleryENSG00000101210
Gene ExpressionEEF1A2 [ NCBI-GEO ]   EEF1A2 [ EBI - ARRAY_EXPRESS ]   EEF1A2 [ SEEK ]   EEF1A2 [ MEM ]
Gene Expression Viewer (FireBrowse)EEF1A2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1917
GTEX Portal (Tissue expression)EEF1A2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ05639   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ05639  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ05639
Splice isoforms : SwissVarQ05639
PhosPhoSitePlusQ05639
Domaine pattern : Prosite (Expaxy)G_TR_1 (PS00301)    G_TR_2 (PS51722)   
Domains : Interpro (EBI)G_TR_CS    P-loop_NTPase    TF_GTP-bd_dom    Transl_B-barrel    Transl_elong_EF1A/Init_IF2_C    Transl_elong_EF1A_euk/arc    Transl_elong_EFTu/EF1A_2    Transl_elong_EFTu/EF1A_C   
Domain families : Pfam (Sanger)GTP_EFTU_D2 (PF03144)    GTP_EFTU_D3 (PF03143)   
Domain families : Pfam (NCBI)pfam03144    pfam03143   
Conserved Domain (NCBI)EEF1A2
DMDM Disease mutations1917
Blocks (Seattle)EEF1A2
PDB (SRS)3C5J   
PDB (PDBSum)3C5J   
PDB (IMB)3C5J   
PDB (RSDB)3C5J   
Structural Biology KnowledgeBase3C5J   
SCOP (Structural Classification of Proteins)3C5J   
CATH (Classification of proteins structures)3C5J   
SuperfamilyQ05639
Human Protein AtlasENSG00000101210
Peptide AtlasQ05639
HPRD04265
IPIIPI00014424   IPI00556204   
Protein Interaction databases
DIP (DOE-UCLA)Q05639
IntAct (EBI)Q05639
FunCoupENSG00000101210
BioGRIDEEF1A2
STRING (EMBL)EEF1A2
ZODIACEEF1A2
Ontologies - Pathways
QuickGOQ05639
Ontology : AmiGOtranslation elongation factor activity  GTPase activity  protein binding  GTP binding  nucleus  cytoplasm  eukaryotic translation elongation factor 1 complex  translational elongation  translation factor activity, RNA binding  response to inorganic substance  protein kinase binding  neuronal cell body  positive regulation of apoptotic process  myelin sheath  response to electrical stimulus  positive regulation of lipid kinase activity  cytoplasmic side of lysosomal membrane  regulation of chaperone-mediated autophagy  
Ontology : EGO-EBItranslation elongation factor activity  GTPase activity  protein binding  GTP binding  nucleus  cytoplasm  eukaryotic translation elongation factor 1 complex  translational elongation  translation factor activity, RNA binding  response to inorganic substance  protein kinase binding  neuronal cell body  positive regulation of apoptotic process  myelin sheath  response to electrical stimulus  positive regulation of lipid kinase activity  cytoplasmic side of lysosomal membrane  regulation of chaperone-mediated autophagy  
Pathways : KEGGRNA transport    Legionellosis   
REACTOMEQ05639 [protein]
REACTOME PathwaysR-HSA-156842 Eukaryotic Translation Elongation [pathway]
NDEx NetworkEEF1A2
Atlas of Cancer Signalling NetworkEEF1A2
Wikipedia pathwaysEEF1A2
Orthology - Evolution
OrthoDB1917
GeneTree (enSembl)ENSG00000101210
Phylogenetic Trees/Animal Genes : TreeFamEEF1A2
HOVERGENQ05639
HOGENOMQ05639
Homologs : HomoloGeneEEF1A2
Homology/Alignments : Family Browser (UCSC)EEF1A2
Gene fusions - Rearrangements
Fusion : MitelmanEEF1A2/DKKL1 [20q13.33/19q13.33]  
Fusion: TCGAEEF1A2 20q13.33 DKKL1 19q13.33 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEEF1A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EEF1A2
dbVarEEF1A2
ClinVarEEF1A2
1000_GenomesEEF1A2 
Exome Variant ServerEEF1A2
ExAC (Exome Aggregation Consortium)EEF1A2 (select the gene name)
Genetic variants : HAPMAP1917
Genomic Variants (DGV)EEF1A2 [DGVbeta]
DECIPHER (Syndromes)20:62119365-62130668  ENSG00000101210
CONAN: Copy Number AnalysisEEF1A2 
Mutations
ICGC Data PortalEEF1A2 
TCGA Data PortalEEF1A2 
Broad Tumor PortalEEF1A2
OASIS PortalEEF1A2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEEF1A2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEEF1A2
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 EEF1A2
DgiDB (Drug Gene Interaction Database)EEF1A2
DoCM (Curated mutations)EEF1A2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EEF1A2 (select a term)
intoGenEEF1A2
NCG5 (London)EEF1A2
Cancer3DEEF1A2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602959    616393    616409   
Orphanet18028    23427   
MedgenEEF1A2
Genetic Testing Registry EEF1A2
NextProtQ05639 [Medical]
TSGene1917
GENETestsEEF1A2
Huge Navigator EEF1A2 [HugePedia]
snp3D : Map Gene to Disease1917
BioCentury BCIQEEF1A2
ClinGenEEF1A2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1917
Chemical/Pharm GKB GenePA27628
Clinical trialEEF1A2
Miscellaneous
canSAR (ICR)EEF1A2 (select the gene name)
Probes
Litterature
PubMed87 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEEF1A2
EVEXEEF1A2
GoPubMedEEF1A2
iHOPEEF1A2
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:56:53 CET 2016

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