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FLASH GENE
Symbol EEF1AKNMT contributors: mct - updated : 13-11-2019
HGNC name eEF1A lysine and N-terminal methyltransferase
HGNC id 24248
DNA
TYPE functioning gene
STRUCTURE 16.09 kb     8 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 splicing 3421 - 699 - 2018 30006613
8 splicing 3096 - 613 - 2018 30006613
  • lacking an internal segment in the 5' region
  • using a downstream AUG start codon as compared to variant 1
  • 8 splicing 2953 - 543 - 2018 30006613
  • lacking an in-frame segment in the 5' coding region
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
    Digestivemouthgingiva  moderately
    Lymphoid/Immunespleen   lowly
    Nervousbrain   highly
    Reproductivefemale systemovary  highly
     male systemtestis  highly Homo sapiensAdult
     male systemtestis    Homo sapiensFetal
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    ReproductiveLeydig cell Homo sapiensAdult
    ReproductiveLeydig cell Homo sapiensFetal
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal, pregnancy
    Text umbilical vein
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two distinct MTase domains targeting the N terminus and Lys55 of EEF1A, respectively
  • HOMOLOGY
    Homologene
    FAMILY
  • methyltransferase superfamily
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus
    text localization of EEF1AKNMT in the cytoplasm, mitochondria, and nucleus
    basic FUNCTION
  • S-adenosylmethionine-dependent methyltransferase activity
  • is a tumor suppressor and might provide promising approaches for bladder cancer treatment and prevention
  • having antiapoptotic activity and playing a role in carcinogenesis
  • facilitates the INSL3 production in testicular Leydig cells that is essential for transabdominal testis migration
  • EEF1AKNMT inhibition may likely constitute a targetable vulnerability of tumors driven by aberrant RAS signaling
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • loss of EEF1AKNMT function alters translation dynamics and results in changed translation rates of specific codons
  • EEF1AKNMT-catalyzed EEF1A methylation increases EEF1A intrinsic GTPase activity in vitro and protein production in cells
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in bladder cancer tissues
    tumoral     --over  
    significantly higher in breast cancer tissues than in normal breast tissues
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • is a candidate for applications in early diagnosis and prevention of some cancers
  • Marker
  • may be a potential biomarker for recurrence of breast cancer
  • Therapy target
    ANIMAL & CELL MODELS
  • male Mettl13+/- mouse developed bilateral intraabdominal cryptorchidism, suggesting defective Insl3 production by fetal Leydig cells