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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
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrainhindbraincerebellum  
 brain     Homo sapiens
 spinal cord    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervouscentral    Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
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