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FLASH GENE
Symbol AVIL contributors: mct - updated : 28-12-2020
HGNC name advillin
HGNC id 14188
Corresponding disease
NPHS21 nephrotic syndrome, type 21
Location 12q14.1      Physical location : 58.191.161 - 58.209.852
Synonym symbol(s) p92, DOC6, ADVIL, FLJ12386, DKFZp779O1812, MGC133244
DNA
TYPE functioning gene
STRUCTURE 18.41 kb     19 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
19 - 2711 - 819 - 2004 15096633
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticthymus    
Cardiovascularheart    
Digestiveintestinesmall intestine   
 mouth    
Endocrineadrenal gland    
 pancreas    
Nervousgangliasensory ganglia    Homo sapiensFetal
Reproductivefemale systemuterus   
 male systemtestis   
 male systemprostate   
Respiratorylung    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier/liningendometrium  
Lymphoid    
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
Text expressed in all adult neural crest-derived neurons
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • six gelsolin like repeats
  • two polyphosphoinositide
  • a Villin Headpiece domain (VHP)
  • HOMOLOGY
    interspecies ortholog to murine Avil
    homolog to Drosophila Gel
    homolog to C.elegans K06A4.3
    Homologene
    FAMILY
  • villin/gelsolin family
  • CATEGORY regulatory , structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microfilament
    basic FUNCTION
  • acting as a Ca2+-regulated-actin binding protein
  • playing a role in the development of neuronal cells forming ganglia
  • may be involved in morphogenesis of the microvilli
  • is a sensory neuron-specific actin-binding protein
  • role for advillin in growth cone formation, axon regeneration, and neuropathic pain associated with IB4+ DRG neurons in adulthood
  • AVIL regulates the cytoskeleton through modulating F-actin, while mutants disrupting F-actin binding are defective in its tumorigenic capabilities
  • CELLULAR PROCESS cell life, differentiation
    cell communication
    PHYSIOLOGICAL PROCESS development , nervous system
    text neurogenesis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
  • binding to actin
  • interacting with SCARF1 (co-expressed and interacted with each other in dorsal root ganglion neurons during embryonic development, and involved in the development of dorsal root ganglion neurons by inducing the described morphological changes)
  • AVIL colocalized and interacted with the phospholipase enzyme PLCE1 and with the ARP2/3 actin-modulating complex
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NPHS21
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in all the glioblastomas, but hardly detectable in non-neoplastic astrocytes, neural stem cells or normal brain
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS