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FLASH GENE
Symbol F8A1 contributors: mct - updated : 25-06-2014
HGNC name coagulation factor VIII-associated (intronic transcript) 1
HGNC id 3547
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
isoforms Precursor sharing a common promoter with F8B and transcribed in opposite orientation than F8B and F8C,300 and 400kb upstream F8C
HOMOLOGY
interspecies homolog to murine F8a
Homologene
FAMILY
CATEGORY adhesion
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm
basic FUNCTION
  • contributing to the function of normal huntingtin
  • is a novel effector of the small guanosine triphosphatase RAB5A, a key regulator of endocytosis
  • F8A1 decays is a result of A2 subunit dissociation, which may help regulate the balance between hemostasis and thrombosis
  • maintains a stable interaction with the A3C1C2 subunit
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS coagulation/hemostasis
    PATHWAY
    metabolism
    signaling
    a component
  • contiguous A1A2 domains are separate subunits in the active cofactor, factor VIIIa
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • link between RAB5A, F8A1, and HTT, suggesting mechanism regulating cytoskeleton-dependent endosome dynamics and its dysfunction under pathological conditions
  • binds to phospholipid membranes during formation of the FXase complex
  • F8A1 -mediated reduction of ADRM1 alters the mitochondrial fission activity and results in mitochondrial fragmentation and mitochondrial dysfunction
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    caused a drastic reduction of early endosomal motility through their displacement from microtubules and preferential association with actin filaments
    constitutional     --over  
    in fibroblasts and brain tissue from human patients affected by Huntington disease
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS