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FLASH GENE
Symbol EN1 contributors: mct - updated : 27-03-2019
HGNC name engrailed homeobox 1
HGNC id 3342
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrainhindbraincerebellum   Mus musculusFetal
Reproductivefemale systemplacenta  lowly
Respiratorylung   lowly
Skin/Tegumentskin appendagesskin gland    Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone  lowly
Epithelialsecretoryglandularexocrine  Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron Mus musculusFetal
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, pregnancy
Text pregnancy, embryo, ventral limb ectoderm
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an eukaryotic translation initiation factor 4E (eIF4E) binding domain
  • five EN homology regions (EH)
  • a Groucho binding domain
  • two PBX binding domains
  • an helix-turn-helix DNA binding domain
  • a cell penetration domain
  • a C-terminal transcriptional repression domain
  • HOMOLOGY
    interspecies homolog to murine En1 (95.10 pc)
    homolog to drosophila en (70.00 pc)
    intraspecies paralog to EN2 gene
    Homologene
    FAMILY engrailed homeobox family
    CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • regulator of the ventral limb patterning
  • inhibiting WNT7A expression in ventral limb bud
  • involved in transcriptional and translational modulation
  • seems to be capable of acting as a morphogen in its own right
  • EN1, EN2 represent a new class of genes that are fundamental to patterning cerebellum foliation throughout the mediolateral axis and that act late in development
  • EN1, EN2 are required for patterning the morphological and molecular domains along both axes, as well as for the establishment of the normal afferent topography required to generate a fully functional cerebellum
  • functions upstream of FGFR2 in regulating early calvarial osteogenic differentiation, and likely it plays an additional role in precluding premature osteogenic conversion of the sutural mesenchyme
  • EN1 and EN2 have overlapping functions in the cells derived from each progenitor zone in regulating formation of additional fissures and for extensive cerebellar growth
  • is an activator of intrinsic inflammatory pathways associated with prosurvival in basal-like breast cancer
  • expressed in the ventral ectoderm of the developing limb where it plays an instructive role in the dorsal-ventral patterning of the forelimb (PMUID: 25710467)
  • EN1 but not EN2 has a direct and specific repulsive effect on motor axons of the lateral aspect of the lateral motor column (LMC) but not on medial LMC projections
  • important roles for EN1 in the development and maturation of a diverse group of brainstem auditory neurons
  • is a gene important for ventral nuclei of the lateral lemniscus (VNLL) neuron development and survival
  • regulated levels of PITX3 and EN1 control the size and rostral/caudal-identity of the Mesodiencephalic dopaminergic (mdDA) neuronal population
  • plays an important role in the regionalization of the neural tube
  • CELLULAR PROCESS nucleotide, transcription, regulation
    protein, translation regulation
    PHYSIOLOGICAL PROCESS development , nervous system
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • binding
  • cell & other
    REGULATION
    induced by FGF8
    Other regulated by NURF complex
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    repression of the entire 4-Mb band of chromosome 2q.14.2, associated with global methylation of histone H3 Lys9 in colorectal cancer
    tumoral     --other  
    expressed focally in the epidermal neoplasms of seborrheic keratosis and squamous cell carcinoma
    constitutional        
    causes mispatterning of the forelimb and thus defects in the dorsal-ventral pathfinding choice of motor axons
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    En1 knockout mice