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FLASH GENE
Symbol APBA1 contributors: mct - updated : 30-08-2013
HGNC name amyloid beta (A4) precursor protein-binding, family A, member 1 (X11)
HGNC id 578
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal domain binded to MINC18-1 putative transmembrane segment
  • middle phosphotyrosine domain
  • two C terminal PDZ domains, and through its PDZ domains, interacts with a novel transcription factor, fibrinogen silencer binding protein
    • HOMOLOGY
    interspecies homolog to C09H6-2
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,nucleus
    basic FUNCTION
  • role in assembly of proteins involved in synaptic vesicle exocytosis and synaptic junctions
  • putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion
  • impairs gamma- but not beta-cleavage of amyloid precursor protein
  • modulates secretory and endocytic trafficking and metabolism of amyloid precursor protein
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component CASK, APBA1, VELI1
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • with CASK and VELI1
  • binds to the cytoplasmic domain of the amyloid precursor protein (APP) to modulate its trafficking and metabolism
  • neuronal adaptor protein that interacts with the amyloid precursor protein (APP) through a centrally located phosphotyrosine binding domain to inhibit the production of Abeta peptide
  • CASKIN1 and APBA1 interaction with CASK
  • STXBP1 is a central regulator of neurotransmitter release, interacting with STX1A and APBA1
  • APBA1-dependent endocytosis in dendrites may serve to promote the axonal localization of membrane proteins
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    deregulation of APBA1 may be important for Alzheimer disease pathogenesis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS