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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
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)
    Physical map
    FLJ32675 11p11.2 hypothetical protein FLJ32675 KIAA0652 11p12-q11 hypothetical protein FLJ32675 ARHGAP1 11p12-q12 Rho GTPase activating protein 1 ZNF408 11p11.2 zinc finger protein 408 F2 11p11-q12 coagulation factor II (thrombin) ch-TOG 11p11.2 KIAA0097 gene product LRP4 11p12-p11.2 low density lipoprotein receptor-related protein 4 MGC4707 11p11.2 hypothetical protein MGC4707 ZNF289 11p11.2-p11.12 zinc finger protein 289, ID1 regulated PACSIN3 11p12-p11.2 protein kinase C and casein kinase substrate in neurons 3 DDB2 11p12-p11.2 damage-specific DNA binding protein 2, 48kDa ACP2 11p11.2 acid phosphatase 2, lysosomal NR1H3 11p11.2 nuclear receptor subfamily 1, group H, member 3 MADD 11p11.22-p11.21 MAP-kinase activating death domain MYBPC3 11p11.2 myosin binding protein C, cardiac SPI1 11p12 spleen focus forming virus (SFFV) proviral integration oncogene spi1 SLC39A13 11p11.2 solute carrier family 39 (zinc transporter), member 13 PSMC3 11p13-p12 proteasome (prosome, macropain) 26S subunit, ATPase, 3 RAPSN 11p11.2-p11.1 receptor-associated protein of the synapse, 43kD CUGBP1 11p11 CUG triplet repeat, RNA binding protein 1 KBTBD4 11p11.2 kelch repeat and BTB (POZ) domain containing 4 NDUFS3 11p11.11 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) C1QTNF4 11q11 C1q and tumor necrosis factor related protein 4 MTCH2 11p11.2 mitochondrial carrier homolog 2 (C. elegans) FLJ23598 11p11.2 hypothetical protein FLJ23598 FNBP4 11q12.1 formin binding protein 4 NUP160 11q12.1 nucleoporin 160kDa PTPRJ 11p11.2 protein tyrosine phosphatase, receptor type, J LOC119765 11p11.12 similar to Olfactory receptor 4B1 (OST208) LOC390112 11 similar to Olfactory receptor 4B1 (OST208) LOC119764 11p11.12 similar to Olfactory receptor 4X2 LOC390113 11 similar to Olfactory receptor 4X1
    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)
    • 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