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FLASH GENE
Symbol APBA3 contributors: mct/npt - updated : 08-09-2012
HGNC name amyloid beta (A4) precursor protein-binding, family A, member 3 (X11-like 2)
HGNC id 580
Location 19p13.3      Physical location : 3.750.770 - 3.761.673
Synonym name
  • neuron-specific X11L2 protein
  • neuronal Munc18-1-interacting protein 3
  • adapter protein X11gamma
  • phosphotyrosine-binding/-interacting domain (PTB)-bearing protein
  • Synonym symbol(s) FE65L, MINT3, X11L2, MGC:15815
    DNA
    TYPE functioning gene
    STRUCTURE 10.90 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence cytosine-phosphate-guanine/HTF
    text structure start site in a CpG island
    MAPPING cloned Y linked N status provisional
    Physical map
    BRUNOL5 19p13 bruno-like 5, RNA binding protein (Drosophila) NFIC 19p13.3 nuclear factor I/C (CCAAT-binding transcription factor) LOC284422 19p13.3 similar to HSPC323 MGC4293 19p13.3 hypothetical protein MGC4293 FZR1 19p13.3 hypothetical protein MGC4293 LOC388492 19 LOC388492 MGC20700 19p13.3 hypothetical protein MGC20700 HMG20B 19p13.3 high-mobility group 20B GIPC3 19p13.3 PDZ domain protein GIPC3 LOC388493 19 similar to putative protein (5J182) TBXA2R 19p13.3 thromboxane A2 receptor PIP5K1C 19p13.3 phosphatidylinositol-4-phosphate 5-kinase, type I, gamma TJP3 19p13.3 tight junction protein 3 (zona occludens 3) APBA3 19p13.3 amyloid beta (A4) precursor protein-binding, family A, member 3 (X11-like 2) MRPL54 19p13.3 mitochondrial ribosomal protein L54 MGC15631 19p13.3 hypothetical protein MGC15631 MATK 19p13.3 megakaryocyte-associated tyrosine kinase KIAA1086 19p13.3 megakaryocyte-associated tyrosine kinase LOC388494 19 hypothetical gene supported by AL365406; BC034005 ATCAY 19p13.3 ataxia, cerebellar, Cayman type (caytaxin) ITGB1BP3 19p13.3 integrin beta 1 binding protein 3 DAPK3 19p13.3 death-associated protein kinase 3 EEF2 19p13.3 eukaryotic translation elongation factor 2 PIASY 19p13.3 protein inhibitor of activated STAT protein PIASy LOC387622 19 hypothetical gene supported by NM_020224 FBI1 MAP2K2 7q32 mitogen-activated protein kinase kinase 2 CREB3L3 19p13.3 cAMP responsive element binding protein 3-like 3 SIRT6 19p13.3 sirtuin (silent mating type information regulation 2 homolog) 6 (S. cerevisiae) KIAA1981 EBI3 19p13.3 Epstein-Barr virus induced gene 3 FLJ10374 19p13.3 hypothetical protein FLJ10374 SHD 19p13.3 src homology 2 domain-containing transforming protein D MGC23244 19p13.3 hypothetical protein MGC23244
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 2158 61 575 - 1998 10574372
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis  lowly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • at the N terminus, several putative SH3 binding motifs three protein-protein interaction domains, and a nuclear export signal (NES), mutation of which induces nuclear accumulation of EGFP-APBA3 in the absence of leptomycin B
  • a phosphotyrosine-binding (PTB) domain essential for the binding of FURIN (this binding affects the TGN-specific localization of FURIN)
  • a PID/PTB and two C terminal PDZ elements
  • HOMOLOGY
    interspecies homolog to C.elegans k03d3.6
    Homologene
    FAMILY
  • X11 protein family
  • CATEGORY adaptor , signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    text attached to the plasma membrane by C terminal PDZ domains
    basic FUNCTION
  • modulating processing of the beta-APP and hence formation of beta-APP
  • stimulates MMP24 activity when expressed at low levels in an EWV-dependent fashion, but inhibits its activity at higher levels independent of the EWV motif
  • potentially functions in the nucleus by a mechanism distinct from conventional transactivators
  • adaptor scaffolding protein involved in formation of multiprotein complexes, and trafficking and metabolism of membrane proteins such as the beta-amyloid precursor protein
  • may be the adaptor proteins that regulate the trafficking of MMP24
  • regulates FURIN distribution mainly through interaction with the acidic peptide signal of Furin
  • regulates the HIF1AN-HIF1A pathway, which controls ATP production in macrophages
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component HIF1AN forms a complex with APBA3, and these two factors co-localize within the perinuclear region
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • Alzheimer beta-amyloid precursor protein (APP)-(cytoplasmic domain)
  • BCR (breakpoint cluster region) protein binds to PDZ-domain vesicle coat protein APBA3
  • MMP14 activates HIF1A via APBA3 in many types of cell so as to stimulate glycolysis
  • interaction with MMP14 (APBA3-dependent mechanism represents the effect of MMP14 on ATP production in macrophages)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    decreases macrophage invasion
    constitutional     --low  
    abrogates MMP14-mediated ATP production and ATP-dependent cell motility
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    immunologyinflammatory 
    potential new therapeutic target to regulate macrophage-mediated inflammation
    ANIMAL & CELL MODELS