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FLASH GENE
Symbol EEF1A2 contributors: mct - updated : 15-10-2015
HGNC name eukaryotic translation elongation factor 1 alpha 2
HGNC id 3192
Corresponding disease
EIEE33 epileptic encephalopathy, early infantile, 33
MRD38 mental retardation, autosomal dominant 38
Location 20q13.33      Physical location : 62.119.365 - 62.130.505
Synonym name
  • elongation factor-1 alpha
  • statin S1
  • statin-like
    • Synonym symbol(s) EF1A, EEF1AL, STN, EF-1-alpha-2, HS1, STNL, FLJ41696
    DNA
    TYPE functioning gene
    STRUCTURE 11.14 kb     8 Exon(s)    single Copie(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence cytosine-phosphate-guanine/HTF
    Binding site
    text structure no TATA element, a MEF2 site, twelve E boxes, three EGR-binding sites, one GATA motif
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1841 - 463 not in skeletal -
    8 - 1848 50 463 only heart, brain, aorta, skeletal muscle 1996 8812466
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer monomer
    HOMOLOGY
    interspecies homolog to murine Eef1a2
    intraspecies paralog to highly similar (98p100) to the near-ubiquitously expressed EEF1A1
    Homologene
    FAMILY
  • GTP-binding elongation factor family
  • EF-Tu/EF-1A subfamily
    • CATEGORY regulatory , RNA associated , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • promoting the transfer of aminoacylated tRNA to the A site of the ribosome
  • oncogenicity of eEF1A2 may be related either to its role in protein synthesis or to potential non-canonical functions
  • regulates oncogenesis through AKT1 and PI3K-dependent cytoskeletal remodeling
  • might play an important role in pancreatic carcinogenesis, possibly by acting as a tumour oncogene
  • important role for EEF1A2 in driving cap-independent translation of utrophin A in skeletal muscle
  • PI4KB, EEF1A2 and PI(4)P likely play an important role in mammary neoplasia and acinar development
  • is involved in protein synthesis, suppression of apoptosis, and regulation of actin function and cytoskeletal structure
  • plays an important role in prostate cancer development, especially in inhibiting apoptosis
  • both EEF1A1 and EEF1A2 colocalise with all EEF1B2 subunits, in such close proximity that they are highly likely to be in a complex
  • stimulates the phospholipid signaling and activates the AKT1 -dependent cell migration and actin remodeling that ultimately favors tumorigenesis
  • EEF1A1, and EEF1A2 proteins play a critical role in numerous human diseases through enhancement of oncogenesis, blockade of apoptosis, and increased viral pathogenesis
    • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • translation requires the specific attachment of AAs to AARS and the subsequent delivery of aminoacyl-tRNAs to the ribosome by elongation factor 1 alpha (EEF1A2)
  • interaction between LRRK2 and EEF1A1 and EEF1A2 may reciprocally modulate their physiological function
  • interactions between EEF1A2 and ZPR1 (zinc-finger protein 1), which interacts with the SMN (survival motor neuron) protein, may be important in motor neuron biology
  • EEF1A2 as a novel interacting partner CDKN2A, and interaction of CDKN2A with EEF1A2, and subsequent downregulation of the expression and function of EEF1A2 is a novel mechanism explaining the anti-proliferative effects of CDKN2A
  • interaction with TSPY1, through six lysine residues observed in EEF1A2 suggesting their possible role in TSPY1-EEF1A2 complex formation essential for germ cell development and spermatogenesis
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRD38 , EIEE33
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in ovarian cancer
    tumoral   amplification    
    in lung adenocarcinoma
    tumoral     --over  
    in 83 p100 of pancreatic cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • EEF1A2 is potentially a diagnostic marker in various cancers
    • Therapy target
    SystemTypeDisorderPubmed
    cancerlung 
    potential targets for diagnosis and therapy in lung adenocarcinoma
    cancerreproductiveprostate
    might serve as a potential therapeutic target in prostate cancer
    ANIMAL & CELL MODELS
  • mice homozygous for the wasted mutation (deletion of Eef1A2) die of muscle wasting and neurodegeneration at four weeks post-natal