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FLASH GENE
Symbol AP1S2 contributors: mct - updated : 06-10-2017
HGNC name adaptor-related protein complex 1, sigma 2 subunit
HGNC id 560
Corresponding disease
MRX59 mental retardation, 59
Location Xp22.2      Physical location : 15.843.929 - 15.873.100
Synonym name
  • clathrin adaptor complex 1, sigma 1B subunit
  • Golgi adaptor HA1/AP1 adaptin sigma 1B subunit
  • clathrin assembly protein complex 1 sigma-1B small chain
  • Synonym symbol(s) SIGMA1B, DC22, MGC:1902, MRX59
    DNA
    TYPE functioning gene
    STRUCTURE 29.21 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 2320 - 157 - 2014 24928897
    6 - 2329 - 160 - 2014 24928897
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Hearing/Equilibriumearinnercochlea highly
    Nervousbrain   highly Homo sapiens
    Skin/Tegumentskin   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer heteromer , tetramer
    HOMOLOGY
    interspecies homolog to murine adaptor protein AP1
    ortholog to S cerevisiae Yap17p
    Homologene
    FAMILY adaptor complexes small subunits family
    CATEGORY adaptor , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic,vesicle
    basic FUNCTION
  • transporting ligand receptor complexes from transGolgi network to lysosomes
  • mediating both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors
  • first reported XLMR gene encoding a protein that is directly involved in vesicle assembly and processing
  • adipose-tissue-specific and AP1S2-dependent routes for the transport of SORT1 exist and are involved in the regulation of adipogenesis and adipose-tissue mass
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS endocytosis transport , cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
  • component of an heterotetrameric complex AP-1 with ADTB1, ADTG1/G2, ADTM1/M2
  • component of the coat surrounding the cytoplasmic face of coated vesicles located at the golgi complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • clathrin-associated adaptor protein complex 1 composed of two large subunits one medium and one small subunit
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRX59
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • sigma1B-deficient mice display impaired recycling of synaptic vesicles and lipodystrophy
  • mice deficient in the tissue-specific Ap1s2 complex have impaired synaptic vesicle recycling in hippocampal synapses