Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
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
Location 11p15.4      Physical location : 6.416.354 - 6.440.644
Synonym name
  • stat-like protein
  • adaptor protein FE65a2
  • Synonym symbol(s) FE65, RIR, MGC:9072
    DNA
    TYPE functioning gene
    STRUCTURE 24.49 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC390080 11 similar to olfactory receptor MOR32-1 LOC390081 11 similar to Olfactory receptor 52E4 LOC390082 11 similar to Olfactory receptor 52E5 LOC390083 11 similar to Olfactory receptor 56A6 LOC390084 11 similar to Olfactory receptor 56A4 LOC338751 11p15.4 similar to Olfactory receptor 52L1 LOC390085 11 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) LOC120793 11p15.4 similar to Olfactory receptor 56A4 LOC120796 11p15.4 similar to Olfactory receptor 56A1 LOC390086 11 similar to Olfactory receptor 56A1 LOC390087 11 similar to Olfactory receptor 52L2 OR52X1P 11p15.3 olfactory receptor, family 52, subfamily X, member 1 pseudogene LOC196335 11p15.4 similar to Olfactory receptor 56B4 LOC390088 11 similar to seven transmembrane helix receptor LOC390089 11 hypothetical gene supported by AF359415 LOC255725 11p15.4 similar to seven transmembrane helix receptor LOC120787 11p15.4 similar to seven transmembrane helix receptor MGC34805 11p15.4 hypothetical protein MGC34805 DKFZP566M1046 11p15.4 hypothetical protein DKFZp566M1046 CNGA4 11p15.4 cyclic nucleotide gated channel alpha 4 CCKBR 11p15.4 cholecystokinin B receptor PRKCDBP 11p15.5-p15.4 protein kinase C, delta binding protein SMPD1 11p15.3 sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase) APBB1 11p15.5 amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) HPX 11p15.5 hemopexin TRIM3 11p15.5 tripartite motif-containing 3 ARFIP2 11p15 ADP-ribosylation factor interacting protein 2 (arfaptin 2) FXC1 11p15.2-p15.5 fracture callus 1 homolog (rat) LOC390090 11 similar to voltage-dependent anion channel 1 FLJ35709 11p15.4 hypothetical protein FLJ35709 LOC387749 11 hypothetical gene supported by BX647806 LOC196337 11p15.4 hypothetical protein LOC196337 LOC387750 11 similar to SI:zC220F6.1 (novel protein similar to human dynein heavy chain (DHC)) FLJ32752 11p15.4 hypothetical protein FLJ32752 KIAA0409 11p15.5-p15.2 hypothetical protein FLJ32752 ILK 11p15.3 integrin-linked kinase TAF10 11p15.3 TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa CLN2 11p15.3 ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease) PCDH16 11p15.4 protocadherin 16 dachsous-like (Drosophila) MRPL17 11p15.5-p15.4 mitochondrial ribosomal protein L17 LOC387751 11 similar to very large inducible GTPase-1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 2634 - 708 exclusively expressed in neurons 1997 9407065
    14 - 2634 - 710 widely expressed in all non-neuronal cells, but is not expressed in differentiated neurons 1997 9407065
    also called APBB1 I E delta 9
    14 - 2122 - 451 - 1997 9407065
    15 - 2162 - 451 - 1997 9407065
    13 - 2020 - 488 - 1997 9407065
    14 - 2026 - 490 - 1997 9407065
    14 - 1922 - 475 - 1997 9407065
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly
     pancreas   highly
    Nervousbrain   highly
    Visualeye   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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 207224) 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