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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
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