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Receptor-associated protein of the synapse

43-kDa, Rapsyn, RAPSN
This gene encodes a member of a family of proteins that are receptor associated proteins of the synapse. The encoded protein contains a conserved cAMP-dependent protein kinase phosphorylation site, and plays a critical role in clustering and anchoring nicotinic acetylcholine receptors at synaptic sites by linking the receptors to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Mutations in this gene may play a role in postsynaptic congenital myasthenic syndromes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2011] (from NCBI)
Top mentioned proteins: ACID, HAD, CAN, fibrillin-1, CD45
Papers on 43-kDa
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.
New
Nascimento et al., Madrid, Spain. In Neuromuscul Disord, Dec 2015
UNASSIGNED: Rapsyn (RAPSN) mutations are a common cause of postsynaptic congenital myasthenic syndromes.
Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.
New
Tang et al., Aliso Viejo, United States. In Prenat Diagn, Nov 2015
The provided diagnoses included osteogenesis imperfecta II (COL1A2), glycogen storage disease IV (GBE1), oral-facial-digital syndrome 1 (OFD1), and RAPSN-associated fetal akinesia deformation sequence.
Failure of lysosome clustering and positioning in the juxtanuclear region in cells deficient in rapsyn.
New
Akaaboune et al., Ann Arbor, United States. In J Cell Sci, Nov 2015
In rapsyn-deficient (Rapsn(-/-)) myoblasts or cells overexpressing rapsyn mutants, lysosomes are scattered within the cell and highly dynamic.
Protein kinase CK2 interacts at the neuromuscular synapse with Rapsyn, Rac1, 14-3-3γ, and Dok-7 proteins and phosphorylates the latter two.
New
Hashemolhosseini et al., Erlangen, Germany. In J Biol Chem, Oct 2015
We identified the following proteins to interact with protein kinase CK2: (a) the α and β subunits of the nicotinic acetylcholine receptors with weak interaction, (b) dishevelled (Dsh), and (c) another four proteins, Rapsyn, Rac1, 14-3-3γ, and Dok-7, with strong interaction.
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
New
Groffen et al., Amsterdam, Netherlands. In Eur J Hum Genet, Sep 2015
FADS can result from mutations in CHRNG, CHRNA1, CHRND, DOK7 and RAPSN; however, these genes only account for a minority of cases.
Hippocampal sclerosis in the parkinsonism-dementia complex of Guam: quantitative examination of neurons, neurofibrillary tangles, and TDP-43 immunoreactivity in CA1.
New
Takahashi et al., Matsumoto, Japan. In Neuropathology, Jun 2015
The cornu ammonis 1 (CA1) area in the hippocampus of the parkinsonism-dementia complex (PDC) of Guam was examined quantitatively with special references to the number of neurons, intraneuronal (i) and extracellular (e) neurofibirillary tangles (NFTs), and TDP-43 (43-kDa trans-activation-responsive region DNA-binding protein)-immunopositive structures, in 24 Chamorro patients with PDC of Guam and seven control Chamorro Guamanians (both groups having no ischemic or anoxic complications).
TDP-43 in amyotrophic lateral sclerosis - is it a prion disease?
Review
New
Brettschneider et al., Ulm, Germany. In Eur J Neurol, May 2015
The neuropathological hallmark of most amyotrophic lateral sclerosis cases are neuronal and glial aggregates of phosphorylated 43-kDa TAR DNA-binding protein (pTDP-43).
Dynamic Changes in Equatorial Segment Protein 1 (SPESP1) Glycosylation During Mouse Spermiogenesis.
New
Herr et al., Charlottesville, United States. In Biol Reprod, May 2015
The 47- and 43-kDa isoforms of SPESP1 from epididymal sperm did not stain with glycoprofile, suggesting an absence of, or few, glycoprofile-sensitive glycoconjugates in epididymal SPESP1.
Involvement of the cytochrome P450 system EthBAD in the N-deethoxymethylation of acetochlor by Rhodococcus sp. strain T3-1.
New
Cui et al., Nanchang, China. In Appl Environ Microbiol, Mar 2015
Based on the results of peptide mass fingerprint analysis, acetochlor N-deethoxymethylase was identified as a cytochrome P450 system, composed of a cytochrome P450 oxygenase (43-kDa component; EthB), a ferredoxin (45 kDa; EthA), and a reductase (11 kDa; EthD), that is involved in the degradation of methyl tert-butyl ether.
Zonisamide Enhances Neurite Elongation of Primary Motor Neurons and Facilitates Peripheral Nerve Regeneration In Vitro and in a Mouse Model.
Ohno et al., Nagoya, Japan. In Plos One, 2014
At 8 weeks after surgery, zonisamide was protective against denervation-induced muscle degeneration in tibialis anterior, and increased gene expression of Chrne, Colq, and Rapsn, which are specifically expressed at the neuromuscular junction.
Focus on lipids: high-density lipoprotein cholesterol and its associated lipoproteins in cardiac and renal disease.
Review
McCullough et al., Dallas, United States. In Nephron Clin Pract, 2013
Circulating APOL1 is a 43-kDa protein mainly found in the HDL3 subfraction.
Biomarkers of inclusion body myositis.
Review
Greenberg, Boston, United States. In Curr Opin Rheumatol, 2013
A blood biomarker, autoantibodies against a 43-kDa muscle protein reported in 2011, has now been identified as targeting cytoplasmic 5' nucleotidase (cN1A; NT5C1A), a protein involved in nucleic acid metabolism.
[Myositis-specific autoantibodies].
Review
Fujimoto, Kanazawa, Japan. In Brain Nerve, 2013
Moreover, a recent study suggested the presence of autoantibodies to a 43-kDa muscle protein in patients with inclusion body myositis.
[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience].
Review
Membres du réseau national Syndromes Myasthéniques Congénitaux et al., Paris, France. In Rev Neurol (paris), 2013
The long-term prognosis of CMS was studied in a series of 79 patients recruited with the following gene mutations: CHRNA; CHRNE; DOK7; COLQ; RAPSN; AGRN; and MUSK.
Rapsyn mediates subsynaptic anchoring of PKA type I and stabilisation of acetylcholine receptor in vivo.
GeneRIF
Rudolf et al., Eggenstein-Leopoldshafen, Germany. In J Cell Sci, 2012
Molecular modelling, immunoprecipitation and bimolecular fluorescence complementation approaches identify an alpha-helical stretch of rapsyn to be crucial for binding to the dimerisation and docking domain of PKA type I.
Glutamatergic neurons induce expression of functional glutamatergic synapses in primary myotubes.
GeneRIF
Buffelli et al., Verona, Italy. In Plos One, 2011
typical anchoring proteins of central excitatory synapses coimmunoprecipitate and colocalize with rapsyn
Diagnosis of congenital myasthenic syndrome with mutation of the RAPSN gene after general anaesthesia.
GeneRIF
Baroncini et al., Bologna, Italy. In Eur J Anaesthesiol, 2011
a mutation of the RAPSN gene may have a role in development of congenital myasthenic syndrome after general anaesthesia [case report]
Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients.
GeneRIF
Skeie et al., Bergen, Norway. In Muscle Nerve, 2011
Investigation of mutations in RAPSN determines that patients with congenital myasthenic syndrome can be misdiagnosed with seronegative myasthenia gravis.
Acetylcholine receptor organization in membrane domains in muscle cells: evidence for rapsyn-independent and rapsyn-dependent mechanisms.
GeneRIF
Hovius et al., Lausanne, Switzerland. In J Biol Chem, 2011
nAChR mobility in plasma membranes of myoblast cells during their differentiation to myotubes in the presence and absence of rapsyn
A novel protein that participates in nonself discrimination of malignant cells by homologous complement.
Impact
Seya et al., Ōsaka, Japan. In Nat Med, 1997
Only malignant cells and cell lines exposed to Fas or X-irradiation stimuli produced this protein, designated M161Ag, which was an unglycosylated 43-kDa protein.
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