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FLASH GENE
Symbol AP3B1 contributors: mct - updated : 17-01-2017
HGNC name adaptor-related protein complex 3, beta 1 subunit
HGNC id 566
Corresponding disease
HPS2 Hermansky-Pudlak syndrome 2
Location 5q14.1      Physical location : 77.298.150 - 77.590.528
Synonym name
  • adaptin large chain beta 3A
  • clathrin assembly protein complex 3 beta-1 large chain
  • beta3A-adaptin
  • Synonym symbol(s) ADTB3A, A3B1, ADTB3, HPS, PE, AP-3
    DNA
    TYPE functioning gene
    STRUCTURE 292.43 kb     33 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - HEXB HEXB - F2R - AP3B1 - D5S1977 - ARSB - THBS4 - DHFR - D5S641 - CKMT2 - D5S626 - D5S428 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    27 - 4009 121.2 1094 - 1999 10024875
    27 - 4072 - 1045 - 1999 10024875
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain     Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines neuronal and non neuronal cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • central hydrophilic region rich in acidic and serine residues
  • potential sites of phosphorylation
  • secondary structure two large chains (delta and beta 3A), a medium chain(mu3) and a small chain (sigma3)
    mono polymer heteromer , tetramer
    HOMOLOGY
    interspecies homolog to murine Ap3b1
    Homologene
    FAMILY
  • adaptor complexes large subunit family
  • CATEGORY adaptor , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    intracellular,nucleus
    text localized to endosomes and/or the trans Golgi network (TGN)
    basic FUNCTION
  • clathrin adaptor, playing a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes
  • maybe associated with and regulating protein trafficking in the endosomes and/or transGolgi network
  • JUN and AP3B1 are involved in the formation of distinct types of clathrin-coated vesicles, each of which is characterized by the incorporation of specific cargo membrane proteins
  • with SLC15A4, and Hermansky-Pudlak syndrome proteins, are required for Toll-like receptor signaling in plasmacytoid dendritic cells
  • required for the function of the IRF7 endosome
  • AP3B1 complex is required for signaling through TLR7 and TLR9 to induce activation of IFN but not proinflammatory cytokine genes
  • novel function for AP3B1 and RUFY1 in regulating lysosome positioning through an interorganellar pathway
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • component of the heterotetrameric assembly complex AP3 with delta subunit, CLAP3M2 and CLAPS3
  • AP3B1 and PI4KIIalpha form a complex that requires a dileucine-sorting motif present in PI4KIIA
  • forms a complex with TLR9 and promotes association of TBPL2 and IRF7
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with SLC30A3, through its cytosolic tail
  • interacting with SLC15A4
  • distinct roles of AP1B1 and AP3B1 in OCA2 transport to melanosomes, indicating that BLOC1S1 can cooperate with either adaptor during cargo sorting to lysosome-related organelles (LROs)
  • AP3B1 facilitates F2R interaction with PDCD6IP, suggesting that AP3B1 functions before F2R engagement of PDCD6IP and multivesicular bodies (MVBs)/lysosomes sorting
  • play distinct roles in melanin production and tyrosinase distribution compared with HPS1 gene
  • SEPTIN6 and SEPTIN7 function in the spatial, temporal organization of AP3B1- and ESCRT-coated membrane domains
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HPS2
    related resource Albinism Database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    beta3A-deficient mouse brain possessed significantly increased synaptic zinc stores and synaptic vesicle content of Slc30a3 and ClC-3