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FLASH GENE
Symbol AMPH contributors: mct - updated : 28-01-2014
HGNC name amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)
HGNC id 471
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron
Reproductivespermatocyte
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal BAR (Bin1, Amphiphysin, Rv167) domain followed by an endocytosis domain and
  • a Cterminal SH3 domain
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY antigen , transport
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm,cytoskeleton
    text peripheral membrane protein associated with the cytoplasmic surface of synaptic vesicles.
    basic FUNCTION
  • involved in synaptic vesicle endocytosis in the nerve terminals,by binding to the coat protein adaptor
  • may be participating in mechanisms of regulated exocytosis in synapses and certain endocrine cell types
  • involved in clathrin-mediated endocytosis
  • essential for cellular phagocytosis and that it is critical for actin polymerization
  • important in the regulation of actin dynamics and it is required for phagocytosis
  • AMPH functions synergistically with full-length DNM2 to catalyze vesicle release
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS endocytosis transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CDK5-dependent phosphorylation of AMPH is enhanced in the presence of lipid membranes
  • dephosphorylated by calcineurin during nerve terminal depolarization and synaptic vesicle endocytosis (SVE)
  • is the cytoplasmic substrate for CDKL5 and its phosphorylation may play crucial roles in the neuronal development
    • cell & other synaptic vesicle associated
    REGULATION
    Phosphorylated by CDKL5 (remarkably phosphorylated by CDKL5)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    reduction of the AMPH protein level is a molecular event associated with the progression of tau-mediated neurodegeneration
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS