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FLASH GENE
Symbol ENC1 contributors: - updated : 17-03-2006
HGNC name ectodermal-neural cortex (with BTB-like domain)
HGNC id 3345
Location 5q13.3      Physical location : 73.923.234 - 73.937.249
Synonym name
  • nuclear restricted protein, BTB-like domain (brain)
  • P53-induced gene 10
  • Synonym symbol(s) NRPB, PIG10, CCL28, ENC-1
    DNA
    TYPE functioning gene
    STRUCTURE 13.00 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - ENC1 - ENC1AS - HEXB HEXB - GFM2 - qter
    Authors Hammmarsund (2004)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - splicing 4827 - 589 - Hammarsund
    - splicing 4691 - 516 - Hammarsund
    lacking 136 bp of exon 2
    - splicing 620 - - - Hammarsund
    retaining the entire intron 1 sequence
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
    Endocrineparathyroid   highly
    Nervousbraindiencephalonhypothalamus highly
     braindiencephalonamygdala highly
     brainforebraincerebral lobefrontalhighly
     spinal cord    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text abundantly in brain, moderately in lung, heart, kidney
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal BTB/POZ domain-like structure and
  • a C terminal 6 Drosophila Kelch motifs (tandemly arranged repeats)
  • a intervening sequence (IVS) domain
  • HOMOLOGY
    Homologene
    FAMILY BTB/Kelch repeat family
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    intracellular,nuclear envelope
    basic FUNCTION
  • involved in differentiation of neural crest cells
  • F-actin associated protein involved in differentiation of neural crest, colon and adipocyte cells
  • may contribute to brain tumorigenesis by promoting cell proliferation, suppressing apoptosis and by affecting nuclear cytoskeleton dynamics
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component constituent of nuclear matrix protein
    INTERACTION
    DNA
    RNA
    small molecule
    protein associating with RB1
    cell & other
    REGULATION
    Other regulated by the CTNNB/TCF pathway
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       gain of function
    in brain tumors
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS