LOCUS       NM_000747               2560 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens cholinergic receptor nicotinic beta 1 subunit
            (CHRNB1), mRNA.
ACCESSION   NM_000747
VERSION     NM_000747.3
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 2560)
  AUTHORS   Chia,R., Saez-Atienzar,S., Drachman,D.B. and Traynor,B.J.
  TITLE     Reply to Zhu et al.: Implications of CHRNB1 and ERBB2 in the
            pathobiology of myasthenia gravis
  JOURNAL   Proc Natl Acad Sci U S A 119 (36), e2209096119 (2022)
   PUBMED   35969799
  REMARK    GeneRIF: Reply to Zhu et al.: Implications of CHRNB1 and ERBB2 in
            the pathobiology of myasthenia gravis.
REFERENCE   2  (bases 1 to 2560)
  AUTHORS   Freed,A.S., Schwarz,A.C., Brei,B.K., Clowes Candadai,S.V.,
            Thies,J., Mah,J.K., Chabra,S., Wang,L., Innes,A.M. and Bennett,J.T.
  TITLE     CHRNB1-associated congenital myasthenia syndrome: Expanding the
            clinical spectrum
  JOURNAL   Am J Med Genet A 185 (3), 827-835 (2021)
   PUBMED   33296147
  REMARK    GeneRIF: CHRNB1-associated congenital myasthenia syndrome:
            Expanding the clinical spectrum.
REFERENCE   3  (bases 1 to 2560)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2560)
  AUTHORS   Aishah,A., Hinton,T. and Machaalani,R.
  TITLE     Cellular protein and mRNA expression of beta1 nicotinic
            acetylcholine receptor (nAChR) subunit in brain, skeletal muscle
            and placenta
  JOURNAL   Int J Dev Neurosci 58, 9-16 (2017)
   PUBMED   28153524
  REMARK    GeneRIF: This study reports on the presence of the CHRNB1 at the
            cellular level in human skeletal muscle and placenta and that mRNA
            expression mirrors that of protein within cell types.
REFERENCE   5  (bases 1 to 2560)
  AUTHORS   Shen,X.M., Okuno,T., Milone,M., Otsuka,K., Takahashi,K., Komaki,H.,
            Giles,E., Ohno,K. and Engel,A.G.
  TITLE     Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring
            in the Channel Pore of Muscle AChR is Optimized for Stabilizing
            Channel Gating
  JOURNAL   Hum Mutat 37 (10), 1051-1059 (2016)
   PUBMED   27375219
  REMARK    GeneRIF: Study traced the cause of congenital myasthenia syndrome
            in unrelated patients with dominant missense mutations in the M2
            domain of AChR. A valine residue is replaced by a smaller alanine
            either in the epsilon subunit or an equivalent position in the beta
            one. Also, each valine in the valine ring was found to contribute
            to channel kinetics equally, and the valine ring has bee optimized
            during evolution to govern channe...
REFERENCE   6  (bases 1 to 2560)
  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   7  (bases 1 to 2560)
  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   8  (bases 1 to 2560)
  AUTHORS   Beeson,D., Jeremiah,S., West,L.F., Povey,S. and Newsom-Davis,J.
  TITLE     Assignment of the human nicotinic acetylcholine receptor genes: the
            alpha and delta subunit genes to chromosome 2 and the beta subunit
            gene to chromosome 17
  JOURNAL   Ann Hum Genet 54 (3), 199-208 (1990)
   PUBMED   2221824
REFERENCE   9  (bases 1 to 2560)
  AUTHORS   Beeson,D., Brydson,M. and Newsom-Davis,J.
  TITLE     Nucleotide sequence of human muscle acetylcholine receptor
            beta-subunit
  JOURNAL   Nucleic Acids Res 17 (11), 4391 (1989)
   PUBMED   2740233
REFERENCE   10 (bases 1 to 2560)
  AUTHORS   Kraus,H.
  TITLE     Research methods in the biomechanics of sports
  JOURNAL   Orthop Clin North Am 8 (3), 549-562 (1977)
   PUBMED   887246
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC113189.11, BC023553.2 and
            BC011371.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000747.2.
            
            Summary: The muscle acetylcholine receptor is composed of five
            subunits: two alpha subunits and one beta, one gamma, and one delta
            subunit. This gene encodes the beta subunit of the acetylcholine
            receptor. The acetylcholine receptor changes conformation upon
            acetylcholine binding leading to the opening of an ion-conducting
            channel across the plasma membrane. Mutations in this gene are
            associated with slow-channel congenital myasthenic syndrome.
            [provided by RefSeq, Jul 2008].
            
            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 :: BC023553.2, AK308106.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000306071.7/ ENSP00000304290.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                AC113189.11        95144-95169
            27-161              BC023553.2         1-135
            162-2428            BC011371.1         124-2390
            2429-2463           BC023553.2         2404-2438
            2464-2560           AC113189.11        107697-107793
FEATURES             Location/Qualifiers
     source          1..2560
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     gene            1..2560
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /note="cholinergic receptor nicotinic beta 1 subunit"
                     /db_xref="GeneID:1140"
                     /db_xref="HGNC:HGNC:1961"
                     /db_xref="MIM:100710"
     exon            1..125
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     CDS             68..1573
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /note="cholinergic receptor, nicotinic, beta polypeptide 1
                     (muscle); cholinergic receptor, nicotinic beta 1;
                     acetylcholine receptor subunit beta; acetylcholine
                     receptor, nicotinic, beta 1 (muscle); cholinergic
                     receptor, nicotinic, beta 1 (muscle)"
                     /codon_start=1
                     /product="acetylcholine receptor subunit beta precursor"
                     /protein_id="NP_000738.2"
                     /db_xref="CCDS:CCDS11106.1"
                     /db_xref="GeneID:1140"
                     /db_xref="HGNC:HGNC:1961"
                     /db_xref="MIM:100710"
                     /translation="MTPGALLMLLGALGAPLAPGVRGSEAEGRLREKLFSGYDSSVRP
                     AREVGDRVRVSVGLILAQLISLNEKDEEMSTKVYLDLEWTDYRLSWDPAEHDGIDSLR
                     ITAESVWLPDVVLLNNNDGNFDVALDISVVVSSDGSVRWQPPGIYRSSCSIQVTYFPF
                     DWQNCTMVFSSYSYDSSEVSLQTGLGPDGQGHQEIHIHEGTFIENGQWEIIHKPSRLI
                     QPPGDPRGGREGQRQEVIFYLIIRRKPLFYLVNVIAPCILITLLAIFVFYLPPDAGEK
                     MGLSIFALLTLTVFLLLLADKVPETSLSVPIIIKYLMFTMVLVTFSVILSVVVLNLHH
                     RSPHTHQMPLWVRQIFIHKLPLYLRLKRPKPERDLMPEPPHCSSPGSGWGRGTDEYFI
                     RKPPSDFLFPKPNRFQPELSAPDLRRFIDGPNRAVALLPELREVVSSISYIARQLQEQ
                     EDHDALKEDWQFVAMVVDRLFLWTFIIFTSVGTLVIFLDATYHLPPPDPFP"
     exon            126..265
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            266..310
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            311..420
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            421..529
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            530..677
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            678..887
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            888..1111
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            1112..1284
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            1285..1432
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            1433..2560
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2439..2444
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /note="hexamer: AATAAA"
     polyA_site      2463
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /note="major polyA site"
     regulatory      2538..2543
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /note="hexamer: ATTAAA"
     polyA_site      2560
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
ORIGIN      
        1 gtcacttccc ctgtgctggc ggtcccagcg gctctctgag cgaagtcact gagcgagccg
       61 ccaggctatg accccagggg ctctgctgat gctgctgggg gcgctggggg cgccgctcgc
      121 cccaggcgtc cgcggctcgg aggcggaggg tcgactccgg gagaaacttt tctctggcta
      181 tgatagctcc gtgcggccag cgcgggaggt gggagaccgt gtcagggtca gcgttggtct
      241 catcctggcg caactcatca gcctgaacga gaaggatgaa gagatgagca caaaggtgta
      301 cttagacctg gagtggactg actacaggct gagctgggac cctgcggagc acgacggcat
      361 cgattcgctc cgcatcacgg cggaatccgt gtggctccct gacgtggtgc tactgaacaa
      421 caatgatggg aattttgacg tggctctgga cattagcgtc gtggtgtcct ccgacggctc
      481 cgtgcgttgg caacccccgg gcatctatcg cagcagctgc agcatccagg tcacctactt
      541 ccccttcgac tggcagaatt gcactatggt gttcagctcc tacagctacg acagctcgga
      601 ggtcagcctg cagacaggcc tgggtcctga cgggcaaggg catcaggaaa tccacattca
      661 tgaagggact ttcattgaga atggccagtg ggagattatc cacaagccct ctcggctaat
      721 ccagcctcca ggcgatccta ggggagggag ggaaggacag cgccaggaag tcatcttcta
      781 cctcatcatc cgccgcaagc ctctcttcta cctggtcaac gtcattgccc catgcatcct
      841 catcactctt ctggccatct tcgtcttcta cctgccacca gatgcaggag agaagatggg
      901 gctctcaatc tttgccctgc tgacccttac tgtgttcctg ctgctgctgg ctgacaaagt
      961 acctgagacc tcactatcag tacccattat tatcaagtac ctcatgttta ccatggtcct
     1021 cgtcaccttc tcagtcatcc ttagtgtcgt ggttctcaac ctgcaccacc gctcacccca
     1081 cacccaccaa atgccccttt gggtccgtca gatcttcatt cacaaacttc cgctgtacct
     1141 gcgtctaaaa aggcccaaac ccgagagaga cctgatgccg gagccccctc actgttcttc
     1201 tccaggaagt ggctggggtc ggggaacaga tgaatatttc atccggaagc cgccaagtga
     1261 ttttctcttc cccaaaccca ataggttcca gcctgaactg tctgcccctg atctgcggcg
     1321 atttatcgat ggtccaaacc gggctgtggc cctgcttccg gagctacggg aggtcgtctc
     1381 ctctatcagc tacatcgctc gacagctgca ggaacaggag gaccacgatg cgctgaagga
     1441 ggactggcag tttgtggcca tggtagtgga ccgcctcttc ctgtggactt tcatcatctt
     1501 caccagcgtt gggaccctag tcatcttcct ggacgccacg taccacttgc cccctccaga
     1561 cccctttcct tgaagactgg agggttgaga cccaggcccc ctgccagttg aagtgagagt
     1621 ttggtgatac tgtcaagccc tatccttctc tgcctcttaa ctccttcacg aggaatctgg
     1681 gcctcttatt tcgtttctgg ggactgcatt ggactgaggg ctgggtaggc aggtgtcttg
     1741 gacccacctg aaatgcagta tcatctgatt tactctttgg gatcttgaag aagctctttt
     1801 gggtatcaac acctaggtcg ccagtgaaat agaacacaga acaggaacta gattataagc
     1861 cttatgaggt caagaaatgt gacttggccg ggcgcggtgg ctcacgcctg taatcccagc
     1921 actttgggag gccaaggcgg gcggatcacc tgaggtcggg agtttgagac cagcccgacc
     1981 aacatggaga aaccctgtct ctactaaaaa tacaaaatta gccaggtgtg gtggtacatg
     2041 cctgtaatcc cagctactag ggaggctgag gcaggagaat cactcgaacc cgggaggcag
     2101 aggttgcagt gagtcaagat cacgccattg cactccagcc tgggcaacaa gagcgaaact
     2161 ccatctcaaa aaaaaaaaag tgtcttgttc actgcagcat gcccagtgcc acgcacaggt
     2221 gctgacctat agtaagtgct taacatttgt tgaatagggg aaagaaattt ccggaagtaa
     2281 atacagcaat taataatgtt tataagctgg gcatggtcgc tcaggccagt aatcccagtg
     2341 acttaggagg ctgaggtggg aggattactt gaaacccaca gtttgagacc agcctgggca
     2401 acatagtgag accctgtctc taaaaaaata aaaatagaaa taaagtagtg cttattgttt
     2461 gcatgttggg tcttgtggtc gttttctttt tacctttctg taatttatta tgttttgtaa
     2521 tgtgtactat ctctgggatt aaaaaaagtt atttctacaa
//
