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FLASH GENE
Symbol BVES contributors: mct/npt - updated : 22-08-2008
HGNC name blood vessel epicardial substance
HGNC id 1152
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • three transmembrane helices with an extracellular C terminus
  • cytoplasmic carboxyl terminal portion (amino acids 115
    • 358) contains the uncharacterized POPDC domain (23
    25)
    HOMOLOGY
    interspecies ortholog to murine Bves
    Homologene
    FAMILY
  • POP family of proteins containing three putative transmembrane domains
    • CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • playing an important role in development of cardiac and skeletal muscles
  • involved in the regeneration of adult skeletal muscle
  • acting as a cell adhesion molecule in coronary vasculogenesis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text
  • muscle development
  • heart development
    • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with GEFT, a GEF for Rho-family GTPases, and colocalizing in adult skeletal muscle
  • regulator of the RAC1 and CDC42 signaling
    • cell & other
    REGULATION
    Other regulated by PAX3 or PAX3-FOXO1A
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene detection of methylation of the gene in blood might have utility in monitoring and detecting tumor recurrence in early-stage non-small cell lung cancer after curative surgical resection
    Marker
    Therapy target
    ANIMAL & CELL MODELS