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FLASH GENE
Symbol HECW1 contributors: mct - updated : 24-08-2012
HGNC name HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1
HGNC id 22195
Location 7p14.1      Physical location : 43.152.197 - 43.602.938
Synonym name
  • HECT type E3 ubiquitin ligase
  • NEDD4-like ubiquitin-protein ligase 1
  • E3 ubiquitin-protein ligase HECW1
    • Synonym symbol(s) H11, KIAA0322, NEDL1
    EC.number 6.3.2.-
    DNA
    TYPE functioning gene
    STRUCTURE 450.74 kb     30 Exon(s)
    regulatory sequence Binding site
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    30 - 6839 - 1606 - 2004 14684739
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbraindiencephalonhypothalamus  
    Reproductivemale systemtestis   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one C2 domain
  • two WW domains
  • one HECT-type e3 ubiquitin-protein ligase domain
    • HOMOLOGY
    interspecies homolog to murine Hecw1 (88.1pc)
    Homologene
    FAMILY
    CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • involved in the embryonic development and differentiation of the central nervous system
  • may have an ubiquitin-protein ligase activity
  • regulates cell proliferation and differentiation, stress responses, and DNA-damage responses
    • CELLULAR PROCESS protein
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds SCNN1A, SCNN1B and SCNN1G
  • interacts with UBE2D2
  • binds to the C-terminal region of TP53 (enhanced pro-apoptotic activity of TP53 in its catalytic activity-independent manner)
  • RNF43 binds to NEDD-4-like ubiquitin-protein ligase-1 (HECW1), which enhances pro-apoptotic activity by TP53
    • cell & other
    REGULATION
    inhibited by RNF43 (functions as a negative regulator of HECW1)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    leading to motor neuron death in familial amyotrophic lateral sclerosis
    tumoral     --over  
    in favorable neuroblastomas as compared with unfavorable
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS