Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol RAPSN contributors: mct - updated : 09-07-2010
HGNC name receptor-associated protein of the synapse
HGNC id 9863
Corresponding disease
CMSP congenital myasthenic syndrome, post synaptic
MPTLT2 multiple pterygium syndrome, lethal type 2
Location 11p11.2      Physical location : 47.459.314 - 47.470.730
Synonym name
  • receptor-associated protein of the synapse, 43kD
  • rapsyn
  • acetylcholine receptor-associated 43 kDa protein
  • RING finger protein 205
  • 43 kDa postsynaptic protein
    • Synonym symbol(s) CMS1D, CMS1E, MGC3597, RNF205
    DNA
    TYPE functioning gene
    STRUCTURE 11.42 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure
  • E--box cosensus sequence in the promoter
  • numerous interspersed Alu elements may predispose the RAPSN locus for genetic rearrangements
    • MAPPING cloned Y linked N status provisional
    Map pter - D11S1958E - MDK - CHRM4 - ACP2 ACP2 - RAPSN - D11S1350 - D11S1326 - cen
    Authors Buckel (96)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1664 - 412 - Buckel (1996)
    6 - 1541 - 353 - Buckel (1996)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestivemouthtongue   
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, neonatal
    Text eye, lens, eye anterior segment retina foveal, macular choroid, RPE
    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