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Homo sapiens receptor-associated protein of the synapse (RAPSN), transcript variant 2, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_032645 Homo sapiens receptor-associated protein of the synapse (RAPSN), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $549.00 14

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RefSeq Version NM_032645.4, 328802669
Length 1494 bp
Structure linear
Update Date 17-APR-2013
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, Apr 2011].


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
Misc Feature(1)43
Misc Feature(2)152..154
Misc Feature(3)215..454
Misc Feature(4)215..454
Misc Feature(5)218..220
Misc Feature(6)584..919
Misc Feature(7)order(584..589,593..598,605..610,713..718,722..727,
Misc Feature(8)order(602..604,638..640,650..652,659..661,722..724,
Misc Feature(9)824..>1003
Misc Feature(10)1124..1252
Misc Feature(11)order(1124..1126,1133..1135,1181..1183,1187..1189,
Exon (1)1..406
Gene:RAPSN
Gene Synonym:RAPSYN; RNF205
Exon (2)407..745
Gene:RAPSN
Gene Synonym:RAPSYN; RNF205
Exon (3)746..904
Gene:RAPSN
Gene Synonym:RAPSYN; RNF205
Exon (4)905..1003
Gene:RAPSN
Gene Synonym:RAPSYN; RNF205
Exon (5)1004..1203
Gene:RAPSN
Gene Synonym:RAPSYN; RNF205
Exon (6)1204..1494
Gene:RAPSN
Gene Synonym:RAPSYN; RNF205
Translation MGQDQTKQQIEKGLQLYQSNQTEKALQVWTKVLEKSSDLMGRFRVLGCLVTAHSEMGRYK EMLKFAVVQIDTARELEDADFLLESYLNLARSNEKLCEFHKTISYCKTCLGLPGTRAGAQ LGGQVSLSMGNAFLGLSVFQKALESFEKALRYAHNNDDAMLECRVCCSLGSFYAQVKDYE KALFFPCKAAELVNNYGKGWSLKYRAMSQYHMAVAYRLLGRLGSAMECCEESMKIALQHG DRPLQALCLLCFADIHRSRGDLELSQLKLHCLSESIYRSKGLQRELRAHVVRFHECVEET ELYCGLCGESIGEKNSRLQALPCSHIFHLRCLQNNGTRSCPNCRRSSMKPGFV
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Position Chain Variation Link
complement(26)-dbSNP:
complement(26)-g, adbSNP:79691556
complement(99)-t, gdbSNP:141786680
complement(114)-g, adbSNP:78771161
complement(143)-g, adbSNP:117947983
complement(163)-t, adbSNP:1050935
complement(220)-t, cdbSNP:201291481
complement(236)-c, adbSNP:11556408
complement(255)-t, cdbSNP:104894300
complement(290)-g, adbSNP:202091676
complement(296)-c, adbSNP:199984356
complement(325)-t, cdbSNP:146825957
complement(338)-g, adbSNP:201197735
complement(339)-t, cdbSNP:201399991
complement(347)-g, adbSNP:121909254
complement(354)-t, cdbSNP:201725858
complement(376)-t, cdbSNP:72905825
complement(386)-t, cdbSNP:34312154
complement(410)-dbSNP:
complement(410)-t, cdbSNP:145197671
complement(412)-t, cdbSNP:1131389
complement(416)-t, cdbSNP:200892332
complement(425)-t, cdbSNP:150051760
complement(430)-t, cdbSNP:141877523
complement(439)-t, cdbSNP:147923114
complement(455)-g, adbSNP:57878668
complement(478)-c, adbSNP:104894299
complement(494)-t, cdbSNP:200550567
complement(577)-g, adbSNP:190548363
complement(578)-t, cdbSNP:150756111
complement(626)-g, adbSNP:35810986
complement(630)-t, cdbSNP:121909256
complement(665)-g, adbSNP:148600999
complement(670)-g, adbSNP:7111873
complement(671)-t, cdbSNP:142635726
complement(688)-t, cdbSNP:56245238
complement(689)-t, cdbSNP:199506866
complement(698)-g, adbSNP:121909255
complement(704)-t, cdbSNP:104894294
complement(706)-g, adbSNP:146237774
complement(780)-dbSNP:
complement(780)-t, cdbSNP:121909257
complement(814)-t, cdbSNP:200603527
complement(828)-g, adbSNP:34625105
complement(854)-t, cdbSNP:201124957
complement(881)-t, cdbSNP:138863694
complement(973)-dbSNP:
complement(973)-g, adbSNP:111909765
complement(984)-t, cdbSNP:200066826
complement(989)-g, adbSNP:150207592
complement(1034)-dbSNP:
complement(1034)-c, adbSNP:201947904
complement(1078)-t, cdbSNP:149683345
complement(1126)-g, adbSNP:150934532
complement(1135)-g, adbSNP:139525851
complement(1150)-g, adbSNP:150503333
complement(1163)-g, adbSNP:145507075
complement(1180)-g, adbSNP:7126210
complement(1226)-dbSNP:
complement(1226)-g, adbSNP:201796294
complement(1227)-t, cdbSNP:139398367
complement(1246)-g, cdbSNP:77410879
complement(1255)-g, adbSNP:146285971
complement(1333)-t, cdbSNP:45617144
complement(1372)-t, cdbSNP:150020304
complement(1436..1437)-, gdbSNP:139608736
complement(1483)-t, gdbSNP:73459751
Gene SymbolRAPSN
Gene SynonymRAPSYN; RNF205
Chromosome11
Locus Map11p11.2
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_005055 Homo sapiens receptor-associated protein of the synapse (RAPSN), transcript variant 1, mRNA. On-demand $549.00 14
NM_032645 Homo sapiens receptor-associated protein of the synapse (RAPSN), transcript variant 2, mRNA. On-demand $549.00 14
Title A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome .
Author Leshinsky-Silver,E., Shapira,D., Yosovitz,K., Ginsberg,M., Lerman-Sagie,T. and Lev,D.
Journal J. Neurol. Sci. 316 (1-2), 112-115 (2012)
Title Diagnosis of congenital myasthenic syndrome with mutation of the .
Author Gentili,A., Ansaloni,S., Morello,W., Cecini,M.T., Cordelli,D.M. and Baroncini,S.
Journal Eur J Anaesthesiol 28 (10), 748-749 (2011)
Title Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients .
Author Alseth,E.H., Maniaol,A.H., Elsais,A., Nakkestad,H.L., Tallaksen,C., Gilhus,N.E. and Skeie,G.O.
Journal Muscle Nerve 43 (4), 574-577 (2011)
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 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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