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FLASH GENE
Symbol AP2M1 contributors: mct - updated : 19-06-2019
HGNC name adaptor-related protein complex 2, mu 1 subunit
HGNC id 564
Corresponding disease
MRD60 mental retardation autosomal dominant 60
Location 3q27.1      Physical location : 183.892.633 - 183.901.878
Synonym name
  • clathrin adaptor polypeptide,medium chain AP50
  • clathrin-associated/assembly/adaptor protein, medium 1
  • plasma membrane adaptor AP-2 50kDA protein
  • HA2 50 kDA subunit
  • AP-2 mu 2 chain
  • Synonym symbol(s) AP50, CLAPM1, mu2, KIAA0109
    DNA
    TYPE functioning gene
    STRUCTURE 9.25 kb     12 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
    12 - 1958 49.5 435 - 2018 30135209
    variant 1-isoform a
    11 - 1952 49.3 433 - 2018 30135209
    variant 2-isoform b
    14 - 2033 - 460 - 2018 30135209
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
    Cardiovascularheart    
    Digestiveliver    
    Nervousbrain   highly Homo sapiens
    Reproductivemale systemtestis   
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    Nervouscentral  highly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • adaptor complexes medium subunit family
  • CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,peroxisome
    intracellular,cytoplasm,cytosolic,vesicle
    basic FUNCTION
  • involved in regulation of the proton pumping vacuolar ATPase responsible for proton pumpung occuring in the acidification of endosomes and lyposomes
  • putatively mediating rapid internalization through the recognition of tyrosine-based sorting signals
  • potential regulation of CTLA4 endocytosis and function
  • is required for release site replenishment and hearing
  • encodes the mu-subunit of the adaptor protein complex 2 (AP-2), which is involved in clathrin-mediated endocytosis (CME) and synaptic vesicle recycling
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
  • component of assembly complex AP2, clathrin coat assembly complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CTLA4
  • AP2M1 is an interacting partner of RNF111
  • interaction between MAP1LC3A and AP2M1 as well as PICALM showed a significant increase triggered by starvation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRD60
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    in cochlear hair cells impairs vesicle reloading of synaptic release sites and hearing
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • is a promising biomarker for predicting survival of patients with hepatocellular carcinoma
  • Therapy target
    ANIMAL & CELL MODELS