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FLASH GENE
Symbol AP1B1 contributors: mct - updated : 16-11-2018
HGNC name adaptor-related protein complex 1, beta 1 subunit
HGNC id 554
DNA
TYPE functioning gene
STRUCTURE 60.90 kb     20 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
cytosine-phosphate-guanine/HTF
text structure
  • has likely a CG-rich promoter
  • MAPPING cloned Y linked N status confirmed
    Map cen - D22S275 - XBP1 - D22S1150 - EWSR1 - RRP22 - AP1B1 (TSG22B ) - ADTB1L1 - RFPL1 - RFPL1S - NEFH - NIPSNAP1 - NF2 NF2 (TSG22A ) - qter
    Authors Zucman-Rossi (96),Seroussi (98),Dunham (99)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 - 4194 104.6 949 - 2013 23415225
    21 - 4164 104.5 939 - 2013 23415225
    lacks an alternate in-frame coding exon compared to variant 1
    21 - 4104 - 919 - 2013 23415225
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
    Endocrinethyroid   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningepidermis   Homo sapiens
    cell lineage
    cell lines
    fluid/secretion lymph highly
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two globular N terminal adaptin domains (GAT
  • C terminal interconnected by a variable and potentially flexible stalk domain
  • mono polymer heteromer , tetramer
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY adaptor , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic,vesicle
    text membrane in the steady state, cytoplasmic face of coated vesicles
    basic FUNCTION
  • adaptin beta 1,large chain, transporting ligand-receptor complexes from plasma membrane or Golgi to lysosomes
  • may be also involved in protein sorting to the basolateral plasma membrane of polarized epithelial cells
  • is crucial for correct delivery of many transmembrane proteins from recycling endosomes to the basolateral plasma membrane
  • VAMP3 and AP1B1 cooperate in basolateral membrane trafficking
  • differential expression of AP1B contributes to normal kidney function and illustrates possible roles of this adapter protein in kidney development, physiology, and pathology
  • AP1B1-mediated protein sorting machinery is required for maintenance of immune homeostasis and prevention of excessive inflammation
  • is likely essential for maintaining integrity and ion homeostasis in hair cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of clathrin-coated vesicles
  • heterotetrameric adaptor complex AP-1 with AP1G1/G2, AP1M1/M2, AP1S1/2
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with CREBBP
  • LDLRAP1 colocalizes and cooperates with AP1B1 in recycling endosomes (REs)
  • 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)
  • epithelial-specific clathrin adaptor AP1B1 mediates basolateral EGFR sorting in established epithelia
  • basolateral sorting of CLCN2 is mediated by interactions between a dileucine motif and the clathrin adaptor AP1B1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MEDNIKL1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    in meningioma (see TSG22B)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS