LOCUS       NM_005055               1622 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens receptor associated protein of the synapse (RAPSN),
            transcript variant 1, mRNA.
ACCESSION   NM_005055
VERSION     NM_005055.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1622)
  AUTHORS   Mishra,S., Nair,K.V. and Shukla,A.
  TITLE     Delineation of molecular characteristics of congenital myasthenic
            syndromes in Indian families and review of literature
  JOURNAL   Clin Dysmorphol 32 (4), 162-167 (2023)
   PUBMED   37646703
  REMARK    GeneRIF: Delineation of molecular characteristics of congenital
            myasthenic syndromes in Indian families and review of literature.
            Review article
REFERENCE   2  (bases 1 to 1622)
  AUTHORS   Liao,X., Wang,Y., Lai,X. and Wang,S.
  TITLE     The role of Rapsyn in neuromuscular junction and congenital
            myasthenic syndrome
  JOURNAL   Biomol Biomed 23 (5), 772-784 (2023)
   PUBMED   36815443
  REMARK    GeneRIF: The role of Rapsyn in neuromuscular junction and
            congenital myasthenic syndrome.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1622)
  AUTHORS   Xing,G., Jing,H., Yu,Z., Chen,P., Wang,H., Xiong,W.C. and Mei,L.
  TITLE     Membraneless condensates by Rapsn phase separation as a platform
            for neuromuscular junction formation
  JOURNAL   Neuron 109 (12), 1963-1978 (2021)
   PUBMED   34033754
  REMARK    GeneRIF: Membraneless condensates by Rapsn phase separation as a
            platform for neuromuscular junction formation.
            Erratum:[Neuron. 2022 Jan 19;110(2):350. doi:
            10.1016/j.neuron.2021.12.032.. PMID: 35051365]
REFERENCE   4  (bases 1 to 1622)
  AUTHORS   Rodova,M., Kelly,K.F., VanSaun,M., Daniel,J.M. and Werle,M.J.
  TITLE     Regulation of the rapsyn promoter by kaiso and delta-catenin
  JOURNAL   Mol Cell Biol 24 (16), 7188-7196 (2004)
   PUBMED   15282317
  REMARK    GeneRIF: These results provide the first experimental evidence that
            rapsyn is a direct sequence-specific target of Kaiso and
            delta-catenin.
REFERENCE   5  (bases 1 to 1622)
  AUTHORS   Ohno,K., Engel,A.G., Shen,X.M., Selcen,D., Brengman,J.,
            Harper,C.M., Tsujino,A. and Milone,M.
  TITLE     Rapsyn mutations in humans cause endplate acetylcholine-receptor
            deficiency and myasthenic syndrome
  JOURNAL   Am J Hum Genet 70 (4), 875-885 (2002)
   PUBMED   11791205
  REMARK    GeneRIF: Rapsyn mutations in humans cause endplate
            acetylcholine-receptor deficiency and myasthenic syndrome
REFERENCE   6  (bases 1 to 1622)
  AUTHORS   Ramarao,M.K. and Cohen,J.B.
  TITLE     Mechanism of nicotinic acetylcholine receptor cluster formation by
            rapsyn
  JOURNAL   Proc Natl Acad Sci U S A 95 (7), 4007-4012 (1998)
   PUBMED   9520483
REFERENCE   7  (bases 1 to 1622)
  AUTHORS   Apel,E.D., Glass,D.J., Moscoso,L.M., Yancopoulos,G.D. and
            Sanes,J.R.
  TITLE     Rapsyn is required for MuSK signaling and recruits synaptic
            components to a MuSK-containing scaffold
  JOURNAL   Neuron 18 (4), 623-635 (1997)
   PUBMED   9136771
REFERENCE   8  (bases 1 to 1622)
  AUTHORS   Buckel,A., Beeson,D., James,M. and Vincent,A.
  TITLE     Cloning of cDNA encoding human rapsyn and mapping of the RAPSN gene
            locus to chromosome 11p11.2-p11.1
  JOURNAL   Genomics 35 (3), 613-616 (1996)
   PUBMED   8812503
REFERENCE   9  (bases 1 to 1622)
  AUTHORS   Apel,E.D., Roberds,S.L., Campbell,K.P. and Merlie,J.P.
  TITLE     Rapsyn may function as a link between the acetylcholine receptor
            and the agrin-binding dystrophin-associated glycoprotein complex
  JOURNAL   Neuron 15 (1), 115-126 (1995)
   PUBMED   7619516
REFERENCE   10 (bases 1 to 1622)
  AUTHORS   Abicht,A., Muller,J.S. and Lochmuller,H.
  TITLE     Congenital Myasthenic Syndromes Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301347
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF449218.1 and AC090559.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_005055.4.
            
            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 (1) represents the longer
            transcript and encodes the longer 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.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: Z33905.1, AF449218.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853, SAMEA2151741
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000298854.7/ ENSP00000298854.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-627               AF449218.1         43-669
            628-628             AC090559.7         72360-72360         c
            629-1314            AF449218.1         671-1356
            1315-1315           AC090559.7         63227-63227         c
            1316-1622           AF449218.1         1358-1664
FEATURES             Location/Qualifiers
     source          1..1622
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..1622
                     /gene="RAPSN"
                     /gene_synonym="CMS11; CMS4C; FADS; FADS2; RAPSYN; RNF205"
                     /note="receptor associated protein of the synapse"
                     /db_xref="GeneID:5913"
                     /db_xref="HGNC:HGNC:9863"
                     /db_xref="MIM:601592"
     exon            1..364
                     /gene="RAPSN"
                     /gene_synonym="CMS11; CMS4C; FADS; FADS2; RAPSYN; RNF205"
                     /inference="alignment:Splign:2.1.0"
     CDS             173..1411
                     /gene="RAPSN"
                     /gene_synonym="CMS11; CMS4C; FADS; FADS2; RAPSYN; RNF205"
                     /note="isoform 1 is encoded by transcript variant 1;
                     acetylcholine receptor-associated 43 kda protein; 43 kda
                     postsynaptic protein; 43 kDa receptor-associated protein
                     of the synapse; RING finger protein 205"
                     /codon_start=1
                     /product="43 kDa receptor-associated protein of the
                     synapse isoform 1"
                     /protein_id="NP_005046.2"
                     /db_xref="CCDS:CCDS7936.1"
                     /db_xref="GeneID:5913"
                     /db_xref="HGNC:HGNC:9863"
                     /db_xref="MIM:601592"
                     /translation="MGQDQTKQQIEKGLQLYQSNQTEKALQVWTKVLEKSSDLMGRFR
                     VLGCLVTAHSEMGRYKEMLKFAVVQIDTARELEDADFLLESYLNLARSNEKLCEFHKT
                     ISYCKTCLGLPGTRAGAQLGGQVSLSMGNAFLGLSVFQKALESFEKALRYAHNNDDAM
                     LECRVCCSLGSFYAQVKDYEKALFFPCKAAELVNNYGKGWSLKYRAMSQYHMAVAYRL
                     LGRLGSAMECCEESMKIALQHGDRPLQALCLLCFADIHRSRGDLETAFPRYDSAMSIM
                     TEIGNRLGQVQALLGVAKCWVARKALDKALDAIERAQDLAEEVGNKLSQLKLHCLSES
                     IYRSKGLQRELRAHVVRFHECVEETELYCGLCGESIGEKNSRLQALPCSHIFHLRCLQ
                     NNGTRSCPNCRRSSMKPGFV"
     exon            365..703
                     /gene="RAPSN"
                     /gene_synonym="CMS11; CMS4C; FADS; FADS2; RAPSYN; RNF205"
                     /inference="alignment:Splign:2.1.0"
     exon            704..862
                     /gene="RAPSN"
                     /gene_synonym="CMS11; CMS4C; FADS; FADS2; RAPSYN; RNF205"
                     /inference="alignment:Splign:2.1.0"
     exon            863..961
                     /gene="RAPSN"
                     /gene_synonym="CMS11; CMS4C; FADS; FADS2; RAPSYN; RNF205"
                     /inference="alignment:Splign:2.1.0"
     exon            962..1084
                     /gene="RAPSN"
                     /gene_synonym="CMS11; CMS4C; FADS; FADS2; RAPSYN; RNF205"
                     /inference="alignment:Splign:2.1.0"
     exon            1085..1138
                     /gene="RAPSN"
                     /gene_synonym="CMS11; CMS4C; FADS; FADS2; RAPSYN; RNF205"
                     /inference="alignment:Splign:2.1.0"
     exon            1139..1338
                     /gene="RAPSN"
                     /gene_synonym="CMS11; CMS4C; FADS; FADS2; RAPSYN; RNF205"
                     /inference="alignment:Splign:2.1.0"
     exon            1339..1622
                     /gene="RAPSN"
                     /gene_synonym="CMS11; CMS4C; FADS; FADS2; RAPSYN; RNF205"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1603..1608
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAPSN"
                     /gene_synonym="CMS11; CMS4C; FADS; FADS2; RAPSYN; RNF205"
                     /note="hexamer: AATAAA"
     polyA_site      1622
                     /gene="RAPSN"
                     /gene_synonym="CMS11; CMS4C; FADS; FADS2; RAPSYN; RNF205"
                     /note="major polyA site"
ORIGIN      
        1 gttcccaggg tggcgcctgc tctccatcca ggccccattc cggctcccac ccgacgctgc
       61 ttttgttccc acgtttcggg gggcagctgg cactgtgatt cctgccccat gagtgcctag
      121 aggcacggag ccaccaggga tcaccccacg tgggacacag ggcttgggga ggatggggca
      181 ggaccagacc aagcagcaga tcgagaaggg gctccagctg taccagtcca accagacaga
      241 gaaggcattg caggtgtgga caaaggtgct ggagaagagc tcggacctca tggggcgctt
      301 ccgcgtgctg ggctgcctgg tcacagccca ctcggagatg ggccgctaca aggagatgct
      361 gaagttcgct gtggtccaga tcgacacggc ccgggagctg gaggatgccg acttcctcct
      421 ggagagctac ctgaacctgg cacgcagcaa cgagaagctg tgcgagtttc acaagaccat
      481 ctcctactgc aagacctgcc ttgggctgcc tggtaccagg gcaggtgccc agctcggagg
      541 ccaggtcagc ctgagcatgg gcaatgcctt cctgggcctc agcgtcttcc agaaggccct
      601 ggagagcttc gagaaggccc tgcgctatgc ccacaacaat gatgacgcca tgctcgagtg
      661 ccgcgtgtgc tgcagcctgg gcagcttcta tgcccaggtc aaggactacg agaaagccct
      721 gttcttcccc tgcaaggcgg cagagcttgt caacaactat ggcaaaggct ggagcctgaa
      781 gtaccgggcc atgagccagt accacatggc cgtggcctat cgcctgctgg gccgcctggg
      841 cagtgccatg gagtgttgtg aggagtctat gaagatcgcg ctgcagcacg gggaccggcc
      901 actgcaggcg ctctgcctgc tctgcttcgc tgacatccac cggagccgtg gggacctgga
      961 gacagccttc cccaggtacg actccgccat gagcatcatg accgagatcg gaaaccgcct
     1021 ggggcaggtg caggcgctgc tgggtgtggc caagtgctgg gtggccagga aggcgctgga
     1081 caaggctctg gatgccatcg agagagccca ggatctggcc gaggaggtgg ggaacaagct
     1141 gagccagctc aagctgcact gtctgagcga gagcatttac cgcagcaaag ggctgcagcg
     1201 ggaactgcgg gcgcacgttg tgaggttcca cgagtgcgtg gaggagacgg agctctactg
     1261 cggcctgtgc ggcgagtcca taggcgagaa gaacagccgg ctgcaggccc taccttgctc
     1321 ccacatcttc cacctcaggt gcctgcagaa caacgggacc cggagctgtc ccaactgccg
     1381 ccgctcatcc atgaagcctg gctttgtatg actcctggca gcaggcgtgg gcttcctcct
     1441 cgccactcct gctctttctc cactgcacgc cagaggccca tttactcctg gggcagctgc
     1501 caggtcgtcc tcaccatagc caaggccttg gggcctgccc agggctgctc ccctgggccc
     1561 agctcccctc cctgcctctt tgtactttgc tctttataga aaaataaact gtttgtacct
     1621 gg
//
