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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
Location 22q12.2      Physical location : 29.723.670 - 29.784.572
Synonym name
  • adaptin, beta 1 (beta prime)
  • clathrin-associated/assembly/adaptor beta 1
  • Golgi adaptor HA1/AP1 adaptin beta subunit
  • Synonym symbol(s) BAM22, CLAPB2, ADTB1, AP105A
    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)
    Physical map
    LOC284901 22q12.2 similar to bA436C9.2 (PUTATIVE novel protein similar to part of HSP70/HSP90 organizing protein and transformation sensitive protein) CHEK2 22q12.1 CHK2 checkpoint homolog (S. pombe) HSC20 22q12.2 J-type co-chaperone HSC20 FLJ33814 22q12.2 hypothetical protein FLJ33814 XBP1 22q12.2 X-box binding protein 1 LOC388890 22 LOC388890 FLJ12747 22q12.1 novel C3HC4 type Zinc finger (ring finger) HS747E2A 22q12.1 hypothetical protein HS747E2A KREMEN1 22q12.1 kringle containing transmembrane protein 1 EMU1 22q12.2 emilin and multimerin-domain containing protein 1 C22orf3 22q12.1-q12.2 chromosome 22 open reading frame 3 EWSR1 22q12.2 Ewing sarcoma breakpoint region 1 GAS2L1 22q12.2 growth arrest-specific 2 like 1 RRP22 22q12.2 growth arrest-specific 2 like 1 AP1B1 22q12.2 adaptor-related protein complex 1, beta 1 subunit RFPL1 22q12.2 ret finger protein-like 1 NEFH 22q12.2 neurofilament, heavy polypeptide 200kDa C22orf19 22q12 chromosome 22 open reading frame 19 NIPSNAP1 22q12.2 nipsnap homolog 1 (C. elegans) NF2 22q12.2 neurofibromin 2 (bilateral acoustic neuroma) CABP7 22q12.2 calcium binding protein 7 LOC55954 22cen-q12.3 hypothetical protein LOC55954 HSPC051 22cen-q12.3 ubiquinol-cytochrome c reductase complex (7.2 kD) ASC1p100 22q12.1 ASC-1 complex subunit P100 MTMR3 22q12.2 myotubularin related protein 3 LOC391326 22 similar to h2-calponin MGC26710 22q12.2 hypothetical protein MGC26710 LIF 22q12.2 leukemia inhibitory factor (cholinergic differentiation factor) OSM 22q12.2 oncostatin M TBC1D10 22q12.1-qter TBC1 domain family, member 10 SF3A1 22q12.1 splicing factor 3a, subunit 1, 120kDa LOC388891 22 similar to hypothetical protein 4930562D19 LOC200312 22q12.2 similar to RIKEN cDNA 0610009J22 SEC14L2 22q12.2 SEC14-like 2 (S. cerevisiae) HSPC242 22q hypothetical protein HSPC242 LOC391327 22 similar to solute carrier family 39 (zinc transporter), member 1; zinc-iron regulated transporter-like gene; solute carrier family 39 (zinc transporter), member 3; zinc/iron regulated transporter-like SEC14L3 22q12.2 SEC14-like 3 (S. cerevisiae)
    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
    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)
    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