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FLASH GENE
Symbol EEF1D contributors: mct - updated : 08-04-2014
HGNC name eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)
HGNC id 3211
Location 8q24.3      Physical location : 144.661.866 - 144.679.845
Synonym name
  • guanine nucleotide exchange protein
  • antigen NY-CO-4
  • deltaEF1
  • Synonym symbol(s) EF-1D, FLJ20897, FP1047
    DNA
    TYPE functioning gene
    STRUCTURE 17.98 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 2497 71.42 647 - 2002 11829477
  • encoding for the longest product
  • 8 splicing 1276 30.99 281 - 2002 11829477
  • an 8 exons variant
  • lacking exons 2 & 3
  • encoding for the shortest product
  • 8 - 1219 - 262 - 2002 11829477
    7 - 1204 - 257 - 2002 11829477
    9 - 1452 - 281 - 2002 11829477
    10 - 2381 - 647 - 2002 11829477
    8 - 1458 - 281 - 2002 11829477
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland   highly
     stomach   highly
    Endocrinepancreas   moderately
    Lymphoid/Immunetonsils   predominantly
    Reproductivefemale systembreastmammary gland highly
     female systemovary  highly
     male systemprostate  moderately
    Respiratorylung   moderately
    Skin/Tegumentskin   highly
    Visualeye   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    Muscularstriatumskeletal moderately
    cell lineage
    cell lines
    fluid/secretion lymph
    at STAGE
    physiological period fetal
    Text pancreas
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an eukaryotic elongation factor 1 (EF-1) guanine nucleotide exchange domain
  • a conserved consensus phosphorylation site for the mitotic cyclin-dependent kinase 1 required for its posttranslational modification during mitosis, resulting in lower affinity to its substrate EEF1A
  • HOMOLOGY
    interspecies homolog to rattus Eef1d (87.15 pc)
    homolog to murine Eef1d (85.47 pc)
    intraspecies homolog to EEF1B
    Homologene
    FAMILY
  • EF-1-beta/EF-1-delta family
  • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • having translation factor activity and involved in proline biosynthesis
  • encoding a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome
  • plays a key role in mediating BMP6-induced transcriptional activation of CDH1 in breast cancer cells
  • is likely the switch through which BMP6 restores CDH1-mediated cell-to-cell adhesion and prevents breast cancer metastasis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component 4 subunits: alpha, beta, delta, and gamma
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with HIV-1 Tat
  • TPT1
  • SIAH1-interacting protein and EFF1D functions as a novel negative regulator of SIAH1
  • CSNK2A1 substrate for CSNK2A1 phosphorylation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in cancerous compared to noncancerous oesophageal tissues, and correlated with lymph node metastases, advanced disease stages and poorer prognosis in oesophageal carcinoma
    tumoral     --over  
    in medulloblastoma is adversely associated with with adverse outcome
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS