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FLASH GENE
Symbol EN1 contributors: mct - updated : 27-03-2019
HGNC name engrailed homeobox 1
HGNC id 3342
Location 2q14.2      Physical location : 119.599.747 - 119.605.759
Synonym name engrailed homolog 1
DNA
TYPE functioning gene
STRUCTURE 5.03 kb     2 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Physical map
DPP10 2q14.1 dipeptidylpeptidase 10 LOC391430 2 similar to laminin receptor-like protein LAMRL5 DDX18 2q13 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 LOC389024 2 LOC389024 LOC343958 2q14.2 similar to 5-HT5B serotonin receptor FLJ10996 2q14.2 hypothetical protein FLJ10996 INSIG2 2q21.2 insulin induced gene 2 LOC389025 2 LOC389025 LOC151154 2q14.2 hypothetical LOC151154 EN1 2q14.2 engrailed homolog 1 MARCO 2q14.2 macrophage receptor with collagenous structure LOC165257 2q14.2 C1q-domain containing protein TSAP6 2q14.2 C1q-domain containing protein LOC389026 2 similar to PRO1546 DBI 2q12-q21 diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein) PR1 2q14.2 voltage-dependent calcium channel gamma subunit-like protein SCTR 2q14.1 secretin receptor LOC200373 2q14.2 similar to hypothetical protein MGC10993 2q14.2 hypothetical protein MGC10993 PTPN4 2p24.3-p24.1 protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) EPB41L5 2q21.2 erythrocyte membrane protein band 4.1 like 5 LOC391431 2 similar to NADH dehydrogenase subunit 5 FAM11B 2q21.2 similar to NADH dehydrogenase subunit 5 RALB 2cen-q13 v-ral simian leukemia viral oncogene homolog B (ras related; GTP binding protein) INHBB 2q12-q13 inhibin, beta B (activin AB beta polypeptide) FLJ14816 2q14.2 hypothetical protein FLJ14816 GLI2 2q24 GLI-Kruppel family member GLI2 TFCP2L1 2q14 transcription factor CP2-like 1 CLASP1 2q14-q21 cytoplasmic linker associated protein 1 MKI67IP 2q14.3 MKI67 (FHA domain) interacting nucleolar phosphoprotein TSN 2q21.1 translin LOC389027 2 LOC389027 LOC389028 2 LOC389028
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 2962 - 392 - 2014 24685177
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