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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
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