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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
Location 7p14      Physical location : 38.423.306 - 38.671.020
Synonym name dominant auto-antigen of paraneoplastic Stiff-Man syndrome
Synonym symbol(s) AMPH1
DNA
TYPE functioning gene
STRUCTURE 247.87 kb     21 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
21 splicing 3426 - 695 - 2002 15262992
20 splicing 3300 - 653 - 2002 15262992
- splicing - - - in the retina 2002 15262992
two novel insertions(inserts A and B )
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