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FLASH GENE
Symbol VIL1 contributors: - updated : 25-07-2006
HGNC name villin 1
HGNC id 12690
Corresponding disease
PCHLD progressive cholestatic liver disease of childhood
Location 2q35      Physical location : 219.283.837 - 219.314.246
Synonym symbol(s) VIL, D2S1471
DNA
TYPE functioning gene
STRUCTURE 25.00 kb     19 Exon(s)    1 Copie(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
Map cen - CRYG@ - MAP2 - FN1 - TNP1 - VIL1 - DES - COL6A3 - D2S55 - D2S3 - qter
Authors Spurr (94)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- polyA site 2702 92.6 827 - Pringault
- polyA site 3500 - - - Pringault
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine  highly
 intestinelarge intestinecolon highly
 liver   highly
 stomach   highly
Respiratorylung    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelial    
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
 epithelial cell
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES basic Hydrophilic Hydrophobic
STRUCTURE
motifs/domains
  • a large core fragment, the amino-terminal portion, a small headpiece (binding actin) domain and the C-terminal portion
  • six gelsolin-like repeats
  • a basic unit in which a slightly hydrophilic motif is followed by three hydrophobic motifs, similar between themselves and regularly spaced
  • conjugated PhosphoP
    mono polymer monomer
    HOMOLOGY
    interspecies ortholog to murine Vil
    homolog to Drosophila Gel
    homolog to C.elegans K06A4.3 and Y47G6A.16
    Homologene
    FAMILY
  • calcium-regulated actin-binding proteins family
  • villin/gelsolin family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microfilament
    text brush border
    basic FUNCTION
  • playing a role in the capping, severing, and bundling of actin filaments
  • developmentally regulated and abundantly expressed in germinal matrix and/or migrating cells during cerebral cortical development
  • tyrosine phosphorylation of villin regulates the organization of the actin cytoskeleton
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS digestion
    text Nutrient Absorption
    PATHWAY
    metabolism
    signaling
    a component constituent of intestinal brush border cytoskeleton
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    calcium Ca2+
    protein binding to actin
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PCHLD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in progressive cholestatic liver disease
    constitutional     --over  
    in response to tuberous sclerosis gene mutation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS