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FLASH GENE
Symbol APBB1 contributors: mct/npt/pgu - updated : 28-02-2014
HGNC name amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)
HGNC id 581
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an atypical SRC3 (WW, phosphoserine- or phosphothreonine binding)
  • two phosphotyrosine domain (PID) interacting with the YENPTY motif of APP
  • a bipartite nuclear localization signal (AAs 207–224) required for targeting proteins to the nucleus
  • a WW domain which binds to proline-rich sequences
  • two C-terminal PTB domains (PTB1 and PTB2), C-terminal phosphotyrosine-binding domains
  • HOMOLOGY
    interspecies homolog to rattus Fe65
    Homologene
    FAMILY
  • Fe65 protein family
  • CATEGORY adaptor , signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    text a significant proportion is located in the nuclei
    basic FUNCTION
  • may be blocking cell cycle progression by down regulating thymidylate synthase expression
  • may modulate the internalization of beta-amyloid precursor protein
  • mediating APP trafficking and signalling by interaction
  • adaptor protein that binds to and forms a transcriptionally active complex with the gamma-secretase-derived amyloid precursor protein (APP) intracellular domain
  • functions as a "scaffold" protein to recruit various binding partners together to form a functional complex
  • functions in brain development and amyloid precursor protein (APP) signaling through its interaction with the mammalian enabled (ENAH) protein and APP, respectively
  • having role in nuclear signaling
  • APBB1, APBB2, APBB3 contribute to physiological APP processing and accumulation of APP metabolic products resulting from NMDAR activation
  • attenuates NOTCH1 signaling via the accelerated degradation of the membrane-tethered NOTCH1 in the cytoplasm
  • carries out different functions depending on its location in the regulation of NOTCH1 signaling
  • neuronal adaptor protein that mediates the assembly of multimolecular complexes through a variety of protein-protein interaction domains
  • adaptor protein that binds to the amyloid precursor protein (APP)
  • is a novel regulator of neurite outgrowth via controlling ARF6-RAC1 signaling
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text neurogenesis
    PATHWAY
    metabolism
    signaling
    a component
  • facilitates stable association between NOTCH11 and E3 ligase ITCH through the formation of a trimeric complex
  • APP/APBB1/LRP1 complex is an important mediator of APP processing and affects beta-amyloid peptide production
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds to the intracellular domain of the beta-amyloid precursor protein
  • interacting, through the WW domain, with proline- rich regions of APBB1IP and ENAH
  • interacting with the C-ter region of APP
  • interacting with NEK6 (NEK6 binds to APBB1 through its (267)PPLP(270) motif and the protein-protein interaction between NEK6 and APBB1 regulates their subcellular localization and cell apoptosis)
  • direct interaction of APBB1 and TSHZ3 with the promoter region of CASP4
  • LRP2 interacts with APP and APBB1 in neurons
  • facilitates the accumulation of mutant HTT in cells by preventing its degradation via the UPS, and thereby enhances the toxicity of mutant HTT
  • can regulate VLDLR trafficking and processing, and can serve as a link between VLDLR and APP
  • might have signalling properties together with APP and LRP1
  • interactions with BLM and MCM proteins may contribute to the neuronal cell cycle re-entry observed in brains affected by Alzheimer disease
  • via its first phosphotyrosine binding (PTB) domain, binds to the small GTPase ADP-ribosylation factor 6 (ARF6)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    deletion of two members of the FE65 family of adaptor proteins, APBB1, APBB2, results in cerebral cortical dysplasia
    Susceptibility Alzheimer disease (very late onset dementia of allelic type)
    Variant & Polymorphism SNP , other polymorphism of the intron 13 protecting against Alzhheimer disease
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS