LOCUS       NM_000080               2482 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens cholinergic receptor nicotinic epsilon subunit
            (CHRNE), mRNA.
ACCESSION   NM_000080
VERSION     NM_000080.4
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 2482)
  AUTHORS   Kastreva,K., Chamova,T., Blagoeva,S., Bichev,S., Mihaylova,V.,
            Meyer,S., Thompson,R., Cherninkova,S., Guergueltcheva,V.,
            Lochmuller,H. and Tournev,I.
  TITLE     Characterization of Clinical Phenotypes in Congenital Myasthenic
            Syndrome Associated with the c.1327delG Frameshift Mutation in
            CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit
  JOURNAL   J Neuromuscul Dis 11 (5), 1011-1020 (2024)
   PUBMED   38995797
  REMARK    GeneRIF: Characterization of Clinical Phenotypes in Congenital
            Myasthenic Syndrome Associated with the c.1327delG Frameshift
            Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon
            Subunit.
REFERENCE   2  (bases 1 to 2482)
  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   3  (bases 1 to 2482)
  AUTHORS   Angelini,C., Lispi,L., Salvoro,C., Mostacciuolo,M.L. and Vazza,G.
  TITLE     Clinical and genetic characterization of an Italian family with
            slow-channel syndrome
  JOURNAL   Neurol Sci 40 (3), 503-507 (2019)
   PUBMED   30542963
  REMARK    GeneRIF: This study report a family with progressive proximal and
            distal weakness in which an accurate electrophysiological and CHRNE
            mutation led to a final diagnosis of congenital myasthenic
            syndromes.
REFERENCE   4  (bases 1 to 2482)
  AUTHORS   Estephan,E.P., Sobreira,C.F.D.R., Dos Santos,A.C.J.,
            Tomaselli,P.J., Marques,W. Jr., Ortega,R.P.M., Costa,M.C.M., da
            Silva,A.M.S., Mendonca,R.H., Caldas,V.M., Zambon,A.A., Abath
            Neto,O., Marchiori,P.E., Heise,C.O., Reed,U.C., Azuma,Y., Topf,A.,
            Lochmuller,H. and Zanoteli,E.
  TITLE     A common CHRNE mutation in Brazilian patients with congenital
            myasthenic syndrome
  JOURNAL   J Neurol 265 (3), 708-713 (2018)
   PUBMED   29383513
  REMARK    GeneRIF: Study found a pretest probability of CHRNE c.130dupG
            mutation of 31.9% in at least one allele of CMS patients, and when
            considering only homozygous patients the percentage is still high
            (26.4%); percentages notably increase ifonly patients with impaired
            eye movement and improvement of symptoms with pyridostigmine are
            considered.
REFERENCE   5  (bases 1 to 2482)
  AUTHORS   Shen,X.M., Brengman,J.M., Shen,S., Durmus,H., Preethish-Kumar,V.,
            Yuceyar,N., Vengalil,S., Nalini,A., Deymeer,F., Sine,S.M. and
            Engel,A.G.
  TITLE     Mutations causing congenital myasthenia reveal principal coupling
            pathway in the acetylcholine receptor epsilon-subunit
  JOURNAL   JCI Insight 3 (2), 97826 (2018)
   PUBMED   29367459
  REMARK    GeneRIF: Study identified 2 potentially novel homozygous mutations
            in the AChR epsilon-subunit, epsilonR218W at a position equivalent
            to alphaR209, and E184K at a position equivalent to alphaE175, in 3
            unrelated congenital myasthenic patients.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2482)
  AUTHORS   Gomez,C.M. and Gammack,J.T.
  TITLE     A leucine-to-phenylalanine substitution in the acetylcholine
            receptor ion channel in a family with the slow-channel syndrome
  JOURNAL   Neurology 45 (5), 982-985 (1995)
   PUBMED   7538206
REFERENCE   7  (bases 1 to 2482)
  AUTHORS   Ohno,K., Hutchinson,D.O., Milone,M., Brengman,J.M., Bouzat,C.,
            Sine,S.M. and Engel,A.G.
  TITLE     Congenital myasthenic syndrome caused by prolonged acetylcholine
            receptor channel openings due to a mutation in the M2 domain of the
            epsilon subunit
  JOURNAL   Proc Natl Acad Sci U S A 92 (3), 758-762 (1995)
   PUBMED   7531341
REFERENCE   8  (bases 1 to 2482)
  AUTHORS   Beeson,D., Brydson,M., Betty,M., Jeremiah,S., Povey,S., Vincent,A.
            and Newsom-Davis,J.
  TITLE     Primary structure of the human muscle acetylcholine receptor. cDNA
            cloning of the gamma and epsilon subunits
  JOURNAL   Eur J Biochem 215 (2), 229-238 (1993)
   PUBMED   7688301
REFERENCE   9  (bases 1 to 2482)
  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
REFERENCE   10 (bases 1 to 2482)
  AUTHORS   Yu,X.M. and Hall,Z.W.
  TITLE     Extracellular domains mediating epsilon subunit interactions of
            muscle acetylcholine receptor
  JOURNAL   Nature 352 (6330), 64-67 (1991)
   PUBMED   1712080
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC233723.2 and X66403.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 24, 2018 this sequence version replaced NM_000080.3.
            
            Summary: Acetylcholine receptors at mature mammalian neuromuscular
            junctions are pentameric protein complexes composed of four
            subunits in the ratio of two alpha subunits to one beta, one
            epsilon, and one delta subunit. The acetylcholine receptor changes
            subunit composition shortly after birth when the epsilon subunit
            replaces the gamma subunit seen in embryonic receptors. Mutations
            in the epsilon subunit are associated with congenital myasthenic
            syndrome. [provided by RefSeq, Sep 2009].
            
            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 :: X66403.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2159607 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000649488.2/ ENSP00000497829.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-24                AC233723.2         32573-32596
            25-2259             X66403.1           1-2235
            2260-2482           AC233723.2         37678-37900
FEATURES             Location/Qualifiers
     source          1..2482
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.2"
     gene            1..2482
                     /gene="CHRNE"
                     /gene_synonym="ACHRE; CMS1A1; CMS1D; CMS1E; CMS2A; CMS4A;
                     CMS4B; CMS4C; FCCMS; FIM1; FIMG; FIMG1; MGI; SCCMS"
                     /note="cholinergic receptor nicotinic epsilon subunit"
                     /db_xref="GeneID:1145"
                     /db_xref="HGNC:HGNC:1966"
                     /db_xref="MIM:100725"
     exon            1..81
                     /gene="CHRNE"
                     /gene_synonym="ACHRE; CMS1A1; CMS1D; CMS1E; CMS2A; CMS4A;
                     CMS4B; CMS4C; FCCMS; FIM1; FIMG; FIMG1; MGI; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     CDS             36..1517
                     /gene="CHRNE"
                     /gene_synonym="ACHRE; CMS1A1; CMS1D; CMS1E; CMS2A; CMS4A;
                     CMS4B; CMS4C; FCCMS; FIM1; FIMG; FIMG1; MGI; SCCMS"
                     /note="cholinergic receptor, nicotinic, epsilon
                     polypeptide; acetylcholine receptor subunit epsilon; AchR
                     epsilon subunit; cholinergic receptor, nicotinic epsilon;
                     acetylcholine receptor, nicotinic, epsilon (muscle);
                     cholinergic receptor, nicotinic, epsilon (muscle);
                     myasthenia gravis, familial infantile, 1"
                     /codon_start=1
                     /product="acetylcholine receptor subunit epsilon
                     precursor"
                     /protein_id="NP_000071.1"
                     /db_xref="CCDS:CCDS11058.1"
                     /db_xref="GeneID:1145"
                     /db_xref="HGNC:HGNC:1966"
                     /db_xref="MIM:100725"
                     /translation="MARAPLGVLLLLGLLGRGVGKNEELRLYHHLFNNYDPGSRPVRE
                     PEDTVTISLKVTLTNLISLNEKEETLTTSVWIGIDWQDYRLNYSKDDFGGIETLRVPS
                     ELVWLPEIVLENNIDGQFGVAYDANVLVYEGGSVTWLPPAIYRSVCAVEVTYFPFDWQ
                     NCSLIFRSQTYNAEEVEFTFAVDNDGKTINKIDIDTEAYTENGEWAIDFCPGVIRRHH
                     GGATDGPGETDVIYSLIIRRKPLFYVINIIVPCVLISGLVLLAYFLPAQAGGQKCTVS
                     INVLLAQTVFLFLIAQKIPETSLSVPLLGRFLIFVMVVATLIVMNCVIVLNVSQRTPT
                     THAMSPRLRHVLLELLPRLLGSPPPPEAPRAASPPRRASSVGLLLRAEELILKKPRSE
                     LVFEGQRHRQGTWTAAFCQSLGAAAPEVRCCVDAVNFVAESTRDQEATGEEVSDWVRM
                     GNALDNICFWAALVLFSVGSSLIFLGAYFNRVPDLPYAPCIQP"
     exon            82..224
                     /gene="CHRNE"
                     /gene_synonym="ACHRE; CMS1A1; CMS1D; CMS1E; CMS2A; CMS4A;
                     CMS4B; CMS4C; FCCMS; FIM1; FIMG; FIMG1; MGI; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            225..269
                     /gene="CHRNE"
                     /gene_synonym="ACHRE; CMS1A1; CMS1D; CMS1E; CMS2A; CMS4A;
                     CMS4B; CMS4C; FCCMS; FIM1; FIMG; FIMG1; MGI; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            270..379
                     /gene="CHRNE"
                     /gene_synonym="ACHRE; CMS1A1; CMS1D; CMS1E; CMS2A; CMS4A;
                     CMS4B; CMS4C; FCCMS; FIM1; FIMG; FIMG1; MGI; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            380..535
                     /gene="CHRNE"
                     /gene_synonym="ACHRE; CMS1A1; CMS1D; CMS1E; CMS2A; CMS4A;
                     CMS4B; CMS4C; FCCMS; FIM1; FIMG; FIMG1; MGI; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            536..636
                     /gene="CHRNE"
                     /gene_synonym="ACHRE; CMS1A1; CMS1D; CMS1E; CMS2A; CMS4A;
                     CMS4B; CMS4C; FCCMS; FIM1; FIMG; FIMG1; MGI; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            637..837
                     /gene="CHRNE"
                     /gene_synonym="ACHRE; CMS1A1; CMS1D; CMS1E; CMS2A; CMS4A;
                     CMS4B; CMS4C; FCCMS; FIM1; FIMG; FIMG1; MGI; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            838..952
                     /gene="CHRNE"
                     /gene_synonym="ACHRE; CMS1A1; CMS1D; CMS1E; CMS2A; CMS4A;
                     CMS4B; CMS4C; FCCMS; FIM1; FIMG; FIMG1; MGI; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            953..1067
                     /gene="CHRNE"
                     /gene_synonym="ACHRE; CMS1A1; CMS1D; CMS1E; CMS2A; CMS4A;
                     CMS4B; CMS4C; FCCMS; FIM1; FIMG; FIMG1; MGI; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            1068..1254
                     /gene="CHRNE"
                     /gene_synonym="ACHRE; CMS1A1; CMS1D; CMS1E; CMS2A; CMS4A;
                     CMS4B; CMS4C; FCCMS; FIM1; FIMG; FIMG1; MGI; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            1255..1361
                     /gene="CHRNE"
                     /gene_synonym="ACHRE; CMS1A1; CMS1D; CMS1E; CMS2A; CMS4A;
                     CMS4B; CMS4C; FCCMS; FIM1; FIMG; FIMG1; MGI; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            1362..2482
                     /gene="CHRNE"
                     /gene_synonym="ACHRE; CMS1A1; CMS1D; CMS1E; CMS2A; CMS4A;
                     CMS4B; CMS4C; FCCMS; FIM1; FIMG; FIMG1; MGI; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2231
                     /gene="CHRNE"
                     /gene_synonym="ACHRE; CMS1A1; CMS1D; CMS1E; CMS2A; CMS4A;
                     CMS4B; CMS4C; FCCMS; FIM1; FIMG; FIMG1; MGI; SCCMS"
ORIGIN      
        1 agagctcaga ataaccctga gaaccacgca gcaggatggc aagggctccg cttggggtcc
       61 tgctcctctt ggggcttctc ggcaggggtg tggggaagaa cgaggaactg cgtctttatc
      121 accatctctt caacaactat gacccaggaa gccggccagt gcgggagcct gaggatactg
      181 tcaccatcag cctcaaggtc accctgacga atctcatctc actgaatgaa aaagaggaga
      241 ctctcaccac tagcgtctgg attggaatcg attggcagga ttaccgactc aactacagca
      301 aggacgactt tgggggtata gaaaccctgc gagtcccttc agaactcgtg tggctgccag
      361 agattgtgct ggaaaacaat attgatggcc agttcggagt ggcctacgac gccaacgtgc
      421 tcgtctacga gggcggctcc gtgacgtggc tgcctccggc catctaccgc agcgtctgcg
      481 cagtggaggt cacctacttc cccttcgatt ggcagaactg ttcgcttatt ttccgctctc
      541 agacgtacaa tgccgaagag gtggagttca cttttgccgt agacaacgac ggcaagacca
      601 tcaacaagat cgacatcgac acagaggcct atactgagaa cggcgagtgg gccatcgact
      661 tctgcccggg ggtgatccgc cgccaccacg gtggcgccac cgacggccca ggggagactg
      721 acgtcatcta ctcgctcatc atccgccgga agccgctctt ctacgtcatt aacatcatcg
      781 tgccctgtgt gctcatctcg ggcctggtgc tgctcgccta cttcctgccg gcgcaggccg
      841 gcggccagaa atgcacggtc tccatcaacg tcctgctcgc ccagaccgtc ttcttgttcc
      901 tcattgccca gaaaatccca gagacttctc tgagcgtgcc gctcctgggc aggttcctta
      961 ttttcgtcat ggtggtcgcc acgctcattg tcatgaattg cgtcatcgtg ctcaacgtgt
     1021 cccagcggac gcccaccacc cacgccatgt ccccgcggct gcgccacgtt ctcctggagc
     1081 tgctgccgcg cctcctgggc tccccgccgc cgcccgaggc cccccgggcc gcctcgcccc
     1141 caaggcgggc gtcgtcggtg ggcttattgc tccgcgcgga ggagctgata ctgaaaaagc
     1201 cacggagcga gctcgtgttt gaggggcaga ggcaccggca ggggacctgg acggctgcct
     1261 tctgccagag cctgggcgcc gccgcccccg aggtccgctg ctgtgtggat gccgtgaact
     1321 tcgtggccga gagcacgaga gatcaggagg ccaccggcga ggaagtgtcc gactgggtgc
     1381 gcatggggaa tgcccttgac aacatctgct tctgggccgc tctggtgctc ttcagcgtgg
     1441 gctccagcct catcttcctc ggggcctact tcaaccgagt gcctgatctc ccctacgcgc
     1501 cgtgtatcca gccttagctc gcaccgactt caatttccca cccatctcca gtaggaaatt
     1561 gattttgaaa aagtaggctg ccgccaccac ggcattatga tcccttcccc ctgctgatca
     1621 atctgcagtt tgtgaacttc acaagaatgg tgtgtgcccg ttccctggcg tgtgtaggcc
     1681 tggccgcagt ccaggggtca gcaggaggaa agggttcaca taggctctca ggtgccagtc
     1741 ttccagaaag caaggactgc ccttcattca gccttgctga cctcccagcc tttctaaggc
     1801 tcagccccac gggactctgg tggctgccag cttgtgagct atctatctat attcatttca
     1861 tagccaaaca ggagacccct ttgcaggact tgcacacagg gaggctgtag ccaggaaacc
     1921 ctcttcttcc ctggtctggc tctgctggag cgggtgggaa ccaaacacct tcagtgctgg
     1981 tggccctcag gcccacaggt ttaaggctga ggctgccctg acccttccac agtcatttct
     2041 tctaggtttt cttggcccag cactgcccat cccaccccat gaggctcact cattgcagat
     2101 cccagcccac cctgcccctt tcttccccac cctggaggct ctctctgcct agtctacagt
     2161 actgacagaa agcaaggaca tgcggcctgc atggtgggag ctggttgaat tgtctttatt
     2221 aacaaacagg atatccaagg ccactacatt gaggaggggt ggggggggag ggagaagggt
     2281 tacttgctgc tcacactata tacagatgca agcaaggggc gtggagagtg agggctccct
     2341 gctccctccc tccaccgggg aagggcatgg gctagaagag gagagggggg tcgggaatgg
     2401 ggggaatgtt ttggctggcg gggtcccccc tccattccct ggagtttggg ggaaggggaa
     2461 tcattaaagt gctttcagaa aa
//
