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Description for Protein RAPSN

receptor-associated protein of the synapse
6 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This protein belongs to a family of proteins that are receptor associated proteins of the synapse. It contains a conserved cAMP-dependent protein kinase phosphorylation site. It is believed to play some role in anchoring or stabilizing the nicotinic acetylcholine receptor at synaptic sites. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Two splice variants have been identified for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TPR: Tetratricopeptide repeats
  • CC: Coiled Coil
  • RING: Ring finger
  • LZ: Leucine Zipper
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Receptor associated protein of the synapse, 43KD; 43 kDa receptor associated protein of the synapse; Acetylcholine receptor associated 43 kda protein; 43 kda postsynaptic protein; MGC3597; CMS1E; CMS1D; 43 kD receptor-associated protein of the synapse isoform 1; 43 kD receptor-associated protein of the synapse isoform 2
    Approved Symbol:
    RAPSN
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency(Pd);
  • Myasthenic syndrome, congenital, with facial dysmorphism, associated with acetylcholine receptor deficiency(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 03353 Entrez Gene ID: 5913 OMIM ID: 601592 Swissprot Accession: Q13702;