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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
DNA
TYPE functioning gene
STRUCTURE 244.83 kb     13 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
text structure
  • has multiple transcription start sites
  • minimal promoter was found to be located between -224 and +14, a GC-rich region that contains a functional Sp3 binding site. In neurons, overexpression of Sp3 stimulates the APBA1 promoter while an Sp3 inhibitor suppresses the promoter activity
    • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 6603 - 837 - 2004 14756819
    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