Sequence in raw or FASTA format:
Homo sapiens receptor-associated protein of the synapse (RAPSN), transcript variant 2, mRNA.
| RefSeq Version | NM_032645.4, 328802669 |
| Length | 1494 bp |
| Structure | linear |
| Update Date | 13-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens receptor-associated protein of the synapse (RAPSN), transcript variant 2, mRNA. |
| Product | 43 kDa receptor-associated protein of the synapse isoform 2 |
| Comment | Summary: 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]. Transcript Variant: This variant (2) lacks two consecutive exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. |
| RefSeq | NP_116034.2 |
| CDS | 215..1276 | Exon (1) | 1..406 | Exon (2) | 1..406 | Exon (3) | 407..745 | Exon (4) | 746..904 | Exon (5) | 905..1003 | Exon (6) | 1004..1203 | Exon (7) | 1204..1494 |
| Translation | MGQDQTKQQIEKGLQLYQSNQTEKALQVWTKVLEKSSDLMGRFRVLGCLVTAHSEMGRYK
EMLKFAVVQIDTARELEDADFLLESYLNLARSNEKLCEFHKTISYCKTCLGLPGTRAGAQ
LGGQVSLSMGNAFLGLSVFQKALESFEKALRYAHNNDDAMLECRVCCSLGSFYAQVKDYE
KALFFPCKAAELVNNYGKGWSLKYRAMSQYHMAVAYRLLGRLGSAMECCEESMKIALQHG
DRPLQALCLLCFADIHRSRGDLELSQLKLHCLSESIYRSKGLQRELRAHVVRFHECVEET
ELYCGLCGESIGEKNSRLQALPCSHIFHLRCLQNNGTRSCPNCRRSSMKPGFV
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| Position | Chain | Variation | Link |
| Gene Symbol | RAPSN |
| Gene Synonym | MGC3597; RAPSYN; RNF205 |
| Chromosome | 11 |
| Locus Map | 11p11.2 |
| All Transcripts | NM_032645 , NM_005055 |
| Title | Acetylcholine receptor organization in membrane domains in muscle cells: evidence for rapsyn-independent and rapsyn-dependent mechanisms . |
| Author | Piguet,J., Schreiter,C., Segura,J.M., Vogel,H. and Hovius,R. |
| Journal | J. Biol. Chem. 286 (1), 363-369 (2011) |
| Title | Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing . |
| Author | Gaudon,K., Penisson-Besnier,I., Chabrol,B., Bouhour,F., Demay,L., Ben Ammar,A., Bauche,S., Vial,C., Nicolas,G., Eymard,B., Hantai,D. and Richard,P. |
| Journal | J. Med. Genet. 47 (12), 795-796 (2010) |
| Title | Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients . |
| Author | Milone,M., Shen,X.M., Selcen,D., Ohno,K., Brengman,J., Iannaccone,S.T., Harper,C.M. and Engel,A.G. |
| Journal | Neurology 73 (3), 228-235 (2009) |
| Title | Muscle-like nicotinic receptor accessory molecules in sensory hair cells of the inner ear . |
| Author | Osman,A.A., Schrader,A.D., Hawkes,A.J., Akil,O., Bergeron,A., Lustig,L.R. and Simmons,D.D. |
| Journal | Mol. Cell. Neurosci. 38 (2), 153-169 (2008) |
| Title | Regulation of the rapsyn promoter by kaiso and delta-catenin . |
| Author | Rodova,M., Kelly,K.F., VanSaun,M., Daniel,J.M. and Werle,M.J. |
| Journal | Mol. Cell. Biol. 24 (16), 7188-7196 (2004) |
| Title | Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome . |
| Author | Ohno,K., Engel,A.G., Shen,X.M., Selcen,D., Brengman,J., Harper,C.M., Tsujino,A. and Milone,M. |
| Journal | Am. J. Hum. Genet. 70 (4), 875-885 (2002) |
| Title | Mechanism of nicotinic acetylcholine receptor cluster formation by rapsyn . |
| Author | Ramarao,M.K. and Cohen,J.B. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 95 (7), 4007-4012 (1998) |
| Title | Rapsyn is required for MuSK signaling and recruits synaptic components to a MuSK-containing scaffold . |
| Author | Apel,E.D., Glass,D.J., Moscoso,L.M., Yancopoulos,G.D. and Sanes,J.R. |
| Journal | Neuron 18 (4), 623-635 (1997) |
| Title | Cloning of cDNA encoding human rapsyn and mapping of the RAPSN gene locus to chromosome 11p11.2-p11.1 . |
| Author | Buckel,A., Beeson,D., James,M. and Vincent,A. |
| Journal | Genomics 35 (3), 613-616 (1996) |
| Title | Rapsyn may function as a link between the acetylcholine receptor and the agrin-binding dystrophin-associated glycoprotein complex . |
| Author | Apel,E.D., Roberds,S.L., Campbell,K.P. and Merlie,J.P. |
| Journal | Neuron 15 (1), 115-126 (1995) |
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