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FLASH GENE
Symbol RAPSN contributors: mct - updated : 09-07-2010
HGNC name receptor-associated protein of the synapse
HGNC id 9863
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal myristoylation site
  • eight tandem tetratricopeptide repeats (TPR)
  • a C terminal RING zinc binding motif, essential for cholinergic receptors clustering
  • coiled-coil domain
  • a CAMP-dependent protein kinase phosphorylation site
    • conjugated LipoP , PhosphoP
    HOMOLOGY
    interspecies homolog to murine Rapsn (95.6pc)
    homolog to rattus Rapsn (96.6pc)
    Homologene
    FAMILY
  • RAPsyn family
    • CATEGORY regulatory , signaling neurotransmitter , receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton
    text
  • surface of the postsynaptic membrane
  • located at the cell junction, synpase
    • basic FUNCTION
  • involved in the clustering and anchoring of the receptors in the membrane
  • involved in anchoring or stabilizing the nicotinic acetylcholine receptor at synaptic sites
  • may link the receptor to the underlying postsynaptic cytoskeleton possibly by direct association with actin or spectrin
    • CELLULAR PROCESS nucleotide
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS nervous system
    PATHWAY
    metabolism
    signaling neurotransmission
    synaptic transmission
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • ions Zn2+ binding
    • protein
  • acetylcholine receptor associated
  • CANNTG binded to the E-box promoter sequence for differentiation and specification of muscle cells
  • ACTN2 interacts with rapsyn (RAPSN-actinin interaction can be disrupted by inhibiting ABL1 and by cholinergic stimulation)
  • CSNK2A1 interacts at the neuromuscular synapse with RAPSN, RAC1, YWHAG, and DOK7 proteins and phosphorylates the latter two
    • cell & other
    REGULATION
    Other regulated by CTNND2, ZBTB33 and myogenic transcription factors (Rodova 2004)
    ASSOCIATED DISORDERS
    corresponding disease(s) CMSP , MPTLT2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS