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FLASH GENE
Symbol ENAH contributors: npt/mct/pgu - updated : 24-02-2009
HGNC name enabled homolog (Drosophila)
HGNC id 18271
DNA
TYPE functioning gene
STRUCTURE 166.31 kb     15 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map cen - D1S2550 - D1S2763 - ENAH - D1S439 - D1S525 - qter
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - - - - - 2008 18676769
  • contains an additional exon corresponding to 21 AAs located in the EVH2 domain, from a breast carcinoma cell line of epithelial phenotype
  • specifically associated with an epithelial phenotype, EGFR dependency, and sensitivity to erlotinib (Pino 2008)
  • role in coupling multiple signaling pathways involved in breast cancer
  • activated by EGFR in breast cancer cell lines
  • 15 - 13172 66.4 591 - 2008 19081071
    14 - 13109 63.8 570 - 2007 18158903
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Reproductivemale systemtestis  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • ENA/VASP homology domain (EVH1) at the N terminus
  • an arg-leu-glu-rich region
  • a pro-rich profilin binding motif
  • C terminal EVH2 domain
  • HOMOLOGY
    interspecies homolog to murine enabled homolog
    ortholog to drosophila Ena
    Homologene
    FAMILY
  • Ena/VASP family
  • enabled/vasodilator-stimulated phosphoprotein family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • regulating lamellipodial dynamics and actin network
  • actin regulatory protein involved in the control of cell motility and adhesion, and modulated during human breast carcinogenesis
  • have a role beyond anticapping activity in filopodia formation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction of the EVH1 domain with FPPPP sequence motifs found in a variety of cytoskeletal proteins, including lamellipodin, vinculin, and zyxin
  • ZYX recruits Enabled/vasodilator-stimulated phospho-proteins (ENAH/VASP) to promote actin assembly
  • interaction with ABI1 (promotes the ABL-mediated phosphorylation of ENAH by binding both ABL and ENAH)
  • by mediating intensive F-actin accumulation at the sites of cell infiltration, WASF2, WASL, and ENAH are crucial for PI3K-dependent cell invasion induced by PDGFA
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in high-risk benign breast lesions and primary and metastatic tumors
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS