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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
Location Xq28      Physical location : 154.114.634 - 154.688.276
Synonym name
  • factor 8 intron 22 protein
  • factor VIII-associated gene A
  • huntingtin-associated protein 40
  • Synonym symbol(s) DXS115-1, F8CNS, HAFP40, HAP40, DXS522E, F8A
    DNA
    TYPE functioning gene
    SPECIAL FEATURE gene in gene, opposite orientation
    text a copy in intron 22 of F8 gene and two telomeric and upstream to the factor VIII gene transcription start site
    STRUCTURE 1.70 kb     1 Exon(s)    three Copie(s)
    text structure opposite orientation with F8 nested within F8C intron 22
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 1720 - 371 - -
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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