RAPSN
| Receptor-associated protein of the synapse | |||||||||||
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| Identifiers | |||||||||||
| Symbols | RAPSN ; CMS1D; CMS1E; MGC3597; RNF205 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 3708 | ||||||||||
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| RNA expression pattern | |||||||||||
| File:PBB GE RAPSN 211570 s at tn.png | |||||||||||
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| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
| Ensembl | n/a | n/a | |||||||||
| UniProt | n/a | n/a | |||||||||
| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
| PubMed search | n/a | n/a | |||||||||
Receptor-associated protein of the synapse, also known as RAPSN, is a human gene.[1]
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.[1]
References
Further reading
- Apel ED, Roberds SL, Campbell KP, Merlie JP (1995). "Rapsyn may function as a link between the acetylcholine receptor and the agrin-binding dystrophin-associated glycoprotein complex". Neuron. 15 (1): 115–26. PMID 7619516.
- Buckel A, Beeson D, James M, Vincent A (1996). "Cloning of cDNA encoding human rapsyn and mapping of the RAPSN gene locus to chromosome 11p11.2-p11.1". Genomics. 35 (3): 613–6. doi:10.1006/geno.1996.0409. PMID 8812503.
- Apel ED, Glass DJ, Moscoso LM; et al. (1997). "Rapsyn is required for MuSK signaling and recruits synaptic components to a MuSK-containing scaffold". Neuron. 18 (4): 623–35. PMID 9136771.
- Yang SH, Armson PF, Cha J, Phillips WD (1997). "Clustering of GABAA receptors by rapsyn/43kD protein in vitro". Mol. Cell. Neurosci. 8 (6): 430–8. doi:10.1006/mcne.1997.0597. PMID 9143560.
- Ramarao MK, Cohen JB (1998). "Mechanism of nicotinic acetylcholine receptor cluster formation by rapsyn". Proc. Natl. Acad. Sci. U.S.A. 95 (7): 4007–12. PMID 9520483.
- Fung ET, Lanahan A, Worley P, Huganir RL (1998). "Identification of a Torpedo homolog of Sam68 that interacts with the synapse organizing protein rapsyn". FEBS Lett. 437 (1–2): 29–33. PMID 9804166.
- Qian X, Riccio A, Zhang Y, Ginty DD (1999). "Identification and characterization of novel substrates of Trk receptors in developing neurons". Neuron. 21 (5): 1017–29. PMID 9856458.
- Zhou H, Glass DJ, Yancopoulos GD, Sanes JR (1999). "Distinct domains of MuSK mediate its abilities to induce and to associate with postsynaptic specializations". J. Cell Biol. 146 (5): 1133–46. PMID 10477765.
- Han H, Noakes PG, Phillips WD (2000). "Overexpression of rapsyn inhibits agrin-induced acetylcholine receptor clustering in muscle cells". J. Neurocytol. 28 (9): 763–75. PMID 10859577.
- Ramarao MK, Bianchetta MJ, Lanken J, Cohen JB (2001). "Role of rapsyn tetratricopeptide repeat and coiled-coil domains in self-association and nicotinic acetylcholine receptor clustering". J. Biol. Chem. 276 (10): 7475–83. doi:10.1074/jbc.M009888200. PMID 11087759.
- Lin W, Burgess RW, Dominguez B; et al. (2001). "Distinct roles of nerve and muscle in postsynaptic differentiation of the neuromuscular synapse". Nature. 410 (6832): 1057–64. doi:10.1038/35074025. PMID 11323662.
- Bartoli M, Ramarao MK, Cohen JB (2001). "Interactions of the rapsyn RING-H2 domain with dystroglycan". J. Biol. Chem. 276 (27): 24911–7. doi:10.1074/jbc.M103258200. PMID 11342559.
- Ohno K, Engel AG, Shen XM; et al. (2002). "Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome". Am. J. Hum. Genet. 70 (4): 875–85. PMID 11791205.
- Marchand S, Devillers-Thiéry A, Pons S; et al. (2002). "Rapsyn escorts the nicotinic acetylcholine receptor along the exocytic pathway via association with lipid rafts". J. Neurosci. 22 (20): 8891–901. PMID 12388596.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Huebsch KA, Maimone MM (2003). "Rapsyn-mediated clustering of acetylcholine receptor subunits requires the major cytoplasmic loop of the receptor subunits". J. Neurobiol. 54 (3): 486–501. doi:10.1002/neu.10177. PMID 12532399.
- Ohno K, Sadeh M, Blatt I; et al. (2003). "E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome". Hum. Mol. Genet. 12 (7): 739–48. PMID 12651869.
- Dunne V, Maselli RA (2003). "Identification of pathogenic mutations in the human rapsyn gene". J. Hum. Genet. 48 (4): 204–7. doi:10.1007/s10038-003-0005-7. PMID 12730725.
- Müller JS, Mildner G, Müller-Felber W; et al. (2004). "Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients". Neurology. 60 (11): 1805–10. PMID 12796535.
- Richard P, Gaudon K, Andreux F; et al. (2003). "Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes". J. Med. Genet. 40 (6): e81. PMID 12807980.
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